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Source: http://fathersageandsinglegenedisorders.blogspot.com/feeds/posts/default

<?xml version='1.0' encoding='UTF-8'?><?xml-stylesheet href="http://www.blogger.com/styles/atom.css" type="text/css"?><feed xmlns='http://www.w3.org/2005/Atom' xmlns:openSearch='http://a9.com/-/spec/opensearchrss/1.0/' xmlns:blogger='http://schemas.google.com/blogger/2008' xmlns:georss='http://www.georss.org/georss' xmlns:gd="http://schemas.google.com/g/2005" xmlns:thr='http://purl.org/syndication/thread/1.0'><id>tag:blogger.com,1999:blog-6529223881940377750</id><updated>2024-09-24T22:05:21.492-07:00</updated><category term="advanced paternal age"/><category term="neurofibromatosis 1"/><category term="Duchennes"/><category term="a display of the paternal age effect in sporadic cases"/><category term="achondroplasia"/><category term="autisms"/><category term="schizophrenia"/><category term="sporadic autosomal dominant mutations."/><category term="1981"/><category term="50 % de novo mutations"/><category term="8 showed inheritance of the dystrophin gene from the paternal germ line"/><category term="A father's legacy to a child's health may start before conception and last generations"/><category term="Abraham Reichenberg"/><category term="Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model."/><category term="Apert Syndrome"/><category term="Arthur Beaudet"/><category term="Basal cell nevus syndrome is an autosomal dominant condition with complete"/><category term="Beta-thalessemia and advanced paternal age"/><category term="Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1 and the history of paternal occupational exposure to heat for both fathers"/><category term="Change in Single Gene Causes Degenerative Brain Disease in Mice"/><category term="Common KIBRA alleles"/><category term="Costello Syndrome"/><category term="Duchenne muscular dystrophy"/><category term="Especially for point mutations"/><category term="Factor IX"/><category term="Father's age Feeds Autism Risk"/><category term="Genetic Glitches cause non-familial disorders in offspring of older fathers"/><category term="Hemohilia B"/><category term="Huntington's disease"/><category term="ICSI"/><category term="Intellectual Disability in Women"/><category term="Inversion of intron 22 originated in the male germ line of the maternal grandfather"/><category term="J.M. Friedman"/><category term="James F. Crow"/><category term="Jonathan Sebat and Michael Wigler"/><category term="Just how safe is assisted reproductive technology for treating male factor infertility?"/><category term="LESCH-NYHANS NEW MUTATIONS MOTHER'S PARENTS AGE HIGHER"/><category term="LMNA gene point mutation"/><category term="Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset"/><category term="MIX ED GONADAL DYSGENESIS"/><category term="Marfan syndrome"/><category term="Marfans disease"/><category term="Men also have a biological clock"/><category term="Men's fertility decreases after 35"/><category term="Mutant Gene Causes Epilepsy"/><category term="NF1"/><category term="Noonan Syndrome"/><category term="OVERVIEW ON PROGERIA: A RARE DISEASE OF CHILD"/><category term="Older men are having children"/><category term="Older paternal age and fresh gene mutation: data on additional disorders"/><category term="PTPN11 Mutations"/><category term="Prof Sheena Lewis"/><category term="Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta"/><category term="SUBFERTILE MEN"/><category term="Scientists reveal dangers of older fathers"/><category term="Seasonal Affective Disorder May Be Linked to Genetic Mutation"/><category term="Simons Foundation"/><category term="Spain"/><category term="Sperm DNA Damage: Correlation To Severity Of Semen Abnormalities"/><category term="Sporadic mutations in the FGFR3 GENE"/><category term="The report said there was significant DNA damage to sperm in samples from men over the age of 35."/><category term="These data suggest that the increase frequncy of paternal deletions we observed is due to an increased germinal mutation rate in males"/><category term="Treacher Collins syndrome"/><category term="Turner Syndrome"/><category term="Waardenburg syndrome"/><category term="We found that these families carry different mutations in the one gene"/><category term="Why are the wealthy corporate monied families in America funding the research at genome labs?"/><category term="X chromosome"/><category term="XXY"/><category term="XYY"/><category term="abnormality occurred or a mutation arose in primordial sperm cell"/><category term="age of father and genetic health of child"/><category term="age of the father"/><category term="and Apert syndrome."/><category term="ask men.com"/><category term="athetoid/dystonic or hemiplegic cerebral palsy"/><category term="autoimmune disorders"/><category term="autosomal dominant disorders"/><category term="but the reality of a male biological clock makes this trend worrisome"/><category term="carriers mother's de novo mutations of paternal origin 6/10"/><category term="chromosome 17"/><category term="complete family before age 40 if possible"/><category term="congenital defects"/><category term="cystic fibrosis"/><category term="daughters of old fathers"/><category term="de novo complex chromosomal rearrangement"/><category term="deleterious mutations"/><category term="exclusion of mosaicism in Spanish hemophilia A families with inversion of intron"/><category term="expanded simple tandem repeats and structural chromosome mutations"/><category term="familial retinoblastoma"/><category term="five things you didn't know about men"/><category term="genetic load"/><category term="health"/><category term="healthly maternal grandfather"/><category term="hemophilia-b"/><category term="human spontaneous mutation rate"/><category term="idiopathic scoliosis and defect in CHD7 gene"/><category term="increased paternal age found in 1973 in sporadic neurofibromatosis"/><category term="male biological clock and epilepsy"/><category term="male biological clock and single gene disorders"/><category term="male germ cell line more susceptible to the intrachromosome inversion which leads to the inversion of intron"/><category term="male germline"/><category term="maternal grandfather's age +- 33.7 general population or controls 29.5 +/- 1.3"/><category term="mean age of fathers was 34.1"/><category term="mean paternal age 32.8 significantly greater than control populations"/><category term="men have their own biological clock"/><category term="neurofibromatosis"/><category term="neurofibromatosis 2"/><category term="new mutants for Duchenne Muscular Dystrophy and age of the mother's father at her conception"/><category term="nonsense mutations"/><category term="older fathers might be related to de novo copy number variations found in autism."/><category term="older paternal age"/><category term="one third of hemophilia is a new mutation from an older maternal grandfather"/><category term="only a single case showed maternal inheritance"/><category term="osteogenesis imperfecta"/><category term="paternal age"/><category term="paternal age 35"/><category term="paternal age and fresh mutant genes"/><category term="paternal age effect"/><category term="paternal age effect and achondroplasia"/><category term="paternal age effect and achondroplasia and thanatophoric dysplasia"/><category term="paternal age effect in hemophilia B"/><category term="paternally inherited point mutations associated with retinopathies."/><category term="progeria"/><category term="protocadherin 19"/><category term="scoliosis"/><category term="single gene disorder of achondroplasia with paternal aging"/><category term="small paternal age effect"/><category term="some somatic mosaicism (0.2-25%) found in Hemophilia A families"/><category term="spontaneous mutations"/><category term="sporadic Huntington's Disease"/><category term="sporadic neurofibromatosis 1"/><category term="study confirms"/><category term="thanatophoric dysplasia"/><category term="the contribution of the male germline is dominant."/><category term="the story last week about the increase in death rates of the offspring brings out the hidden risks associated with fathering children at an older age."/><title type='text'>Paternal Age and De Novo Single Gene Disorders ETC.</title><subtitle type='html'>The Northwest Cryobank accepts sperm donations only up to a man's 35th birthday to minimize the risk of de novo genetic disorders.</subtitle><link rel='http://schemas.google.com/g/2005#feed' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/posts/default'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/'/><link rel='hub' href='http://pubsubhubbub.appspot.com/'/><link rel='next' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default?start-index=26&max-results=25'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><generator version='7.00' uri='http://www.blogger.com'>Blogger</generator><openSearch:totalResults>84</openSearch:totalResults><openSearch:startIndex>1</openSearch:startIndex><openSearch:itemsPerPage>25</openSearch:itemsPerPage><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-8023506368372866709</id><published>2010-03-19T15:26:00.000-07:00</published><updated>2010-03-19T15:27:08.595-07:00</updated><title type='text'></title><content type='html'><object width="480" height="385"><param name="movie" value="http://www.youtube.com/v/S-bVEkxguAA&hl=en_US&fs=1&"></param><param name="allowFullScreen" value="true"></param><param name="allowscriptaccess" value="always"></param><embed src="http://www.youtube.com/v/S-bVEkxguAA&hl=en_US&fs=1&" type="application/x-shockwave-flash" allowscriptaccess="always" allowfullscreen="true" width="480" height="385"></embed></object></content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/8023506368372866709/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=8023506368372866709' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/8023506368372866709'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/8023506368372866709'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2010/03/blog-post.html' title=''/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-5211835179738828442</id><published>2010-01-15T07:58:00.000-08:00</published><updated>2010-01-15T07:59:42.001-08:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta"/><title type='text'>Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta</title><content type='html'>Journal of Medical Genetics 1986;23:227-230; doi:10.1136/jmg.23.3.227 Copyright © 1986 by the BMJ Publishing Group Ltd. Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta. A D Carothers, S J McAllion, C R Paterson The mean paternal age at birth of 80 presumed mutant cases of dominant osteogenesis imperfecta (OI) was significantly higher than that of population controls and remained so after adjusting for maternal age. There was also an increase in mean maternal age (not significant) which disappeared after adjusting for paternal age. No significant increase in maternal or paternal age was found in cases having OI either of a dominant type with an affected parent or of a type (Sillence type III) usually regarded as recessive. We conclude that, as in certain other dominant conditions, the risk of mutant OI increases with paternal age. However, the rate of increase of risk with paternal age appears to be considerably lower than, for example, in achondroplasia. The overall risk of fresh dominant mutation in older fathers may therefore be lower than has previously been suggested.</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/5211835179738828442/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=5211835179738828442' title='2 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/5211835179738828442'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/5211835179738828442'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2010/01/risk-of-dominant-mutation-in-older.html' title='Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>2</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-489476654306460021</id><published>2009-12-31T08:35:00.000-08:00</published><updated>2009-12-31T08:37:51.873-08:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="OVERVIEW ON PROGERIA: A RARE DISEASE OF CHILD"/><title type='text'>OVERVIEW ON PROGERIA: A RARE DISEASE OF CHILD Older Fathers and Mutation In Lamin A Gene</title><content type='html'>OVERVIEW ON PROGERIA: A RARE DISEASE OF CHILD Kamal Singh Rathore, Sunita P., Khushboo Sharma, R.K.Nema Progeria is a rare disease, fatal genetic condition that produces rapid aging, beginning in childhood also known as “Hutchinson–Gilford progeria syndrome” or “HGPS” and “Hutchinson–Gilford syndrome” wherein symptoms resembling aspects of aging are manifested at an early age. Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897 – both in England. Its name is derived from the Greek and means “prematurely old.” Approximately 1 in 4000000 people are diagnosed with this condition. Those born with progeria typically live about 13-20 years, It is a genetic condition that occurs as a new mutation and is not usually inherited, although there is a uniquely inheritable form. This is in contrast to another rare but similar premature aging syndrome, dyskeratosis congenita (DKC), which is inheritable and will often be expressed multiple times in a family line. Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic background. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 – 21 years). According to Hayley’s Page “At present there are 53 known cases of Progeria around the world and only 2 in the UK”. There is a reported incidence of Progeria of approximately 1 in every 4 to 8 million newborns. Both boys and girls run an equal risk of having Progeria. Symptoms Progeria is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. The condition is rare; since 1886, only about 130 cases of progeria have been documented in the scientific literature. Usually within the first year of life, growth of a child with progeria slows markedly so that height and weight fall below average for his or her age, and weight falls low for height. Motor development and mental development remain normal. Signs and symptoms of this progressive disorder include: Limited growth or Growth failure during the first year of life Narrow, shrunken or wrinkled face failure to thrive Baldness (alopecia) Insulin-resistant diabetes (diabetes that does not respond readily to insulin injections) Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened) Loss of eyebrows and eyelashes a distinctive appearance (small face and jaw, pinched nose) Short stature and small, fragile bodies, like those of elderly people Large head for size of face (macrocephaly) Open soft spot (fontanelle) Small jaw (micrognathia) Dry, scaly, thin skin Limited range of motion Teeth – delayed or absent formation Later, the condition causes wrinkled skin, atherosclerosis, and cardiovascular problems. Slowed growth, with below-average height and weight A narrowed face and beaked nose, which makes the child look old Head too large for face Prominent scalp veins Prominent eyes Small lower jaw (micrognathia) High-pitched voice Delayed and abnormal tooth formation Loss of body fat and muscle Stiff joints Hip dislocation Causes Progeria usually occurs without cause – it is not seen in siblings of affected children. In extremely rare cases more than one child in the same family may have the condition. It is only very rarely seen in more than one child in a family. Progeria is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene (Lamin A), replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope. 90% of children with progeria have a mutation on the gene that encodes the protein lamin A. a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients. Diagnosis Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test. The health care professional will possibly suspect Progeria if the signs and symptoms are there – aging skin, loss of hair, stiffness of joints, etc. This can then be confirmed through a genetic test. The Progeria Research Foundation has created a Diagnostic Testing Program. No diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, which typically aren’t fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it’s possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder. A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn’t diagnostic by itself, but may lend support to a diagnosis of progeria. Treatment No treatments have been proven effective. Most treatment focuses on reducing complications (such as cardiovascular disease) with heart bypass surgery or low-dose aspirin. A daily dose may help prevent heart attacks and stroke. Growth hormone treatment has been attempted. Drugs known as farnesyltransferase inhibitors (FTIs), which were developed for treating cancer, have shown promise in laboratory studies in correcting the cell defects that cause progeria. FTIs are currently being studied in human clinical trials for treatment of progeria. it has been proposed, but their use has been mostly limited to animal models. A Phase II clinical trial using the FTI Lonafarnib began in May 2007. Physical and occupational therapy. These may help with joint stiffness and hip problems, and may allow your child to remain active. High-calorie dietary supplements. Including extra calories in your child’s daily diet may help prevent weight loss and ensure adequate nutrition. Feeding tube. Infants who feed poorly may benefit from a feeding tube and a syringe. You can use the syringe to push pumped breast milk or formula through the tube to make it easier for your child to feed. Extraction of primary teeth. Your child’s permanent teeth may start coming in before his or her baby teeth fall out. Extraction may help prevent problems associated with the delayed loss of baby teeth, including overcrowding and developing a second row of teeth when permanent teeth come in. Prognosis There is no known cure. Few people with progeria exceed 13 years of age. At least 90% of patients die from complications of atherosclerosis, such as heart attack or stroke. Mental development is not affected. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, patients show no neurodegeneration or cancer predisposition. They do not develop physically mediated “wear and tear” conditions commonly associated with aging, like cataracts (caused by UV exposure) and osteoarthritis (caused by mechanical wear). Epidemiology Classical Hutchinson-Gilford Progeria Syndrome is almost never passed on from parent to child. It is usually caused by a new (sporadic) mutation during the early division of the cells in the child. It is usually genetically dominant; therefore, parents who are healthy will normally not pass it on to their children. Affected children rarely live long enough to have children themselves. Research indicates that a chemical (hyaluronic acid) may be found in greatly elevated levels in the urine of Hutchinson-Gilford Progeria Syndrome patients. The same abnormality has been found in Werner Syndrome, which is sometimes called ‘progeria of the adult’. Lamin A Nuclear lamin A is a protein scaffold on the inner edge of the nucleus that helps organize nuclear processes such as RNA and DNA synthesis. Prelamin A contains a CAAX box at the C-terminus of the protein (where C is a cysteine and A is any aliphatic amino acids). This ensures that the cysteine is farnesylated and allows prelamin A to bind membranes, specifically the nuclear membrane. After prelamin A has been localized to the cell nuclear membrane, the C-terminal amino acids, including the farnesylated cysteine, are cleaved off by a specific protease. The resulting protein is now lamin A, is no longer membrane-bound, and carries out functions inside the nucleus. In 2003, NHGRI researchers, together with colleagues at the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan, discovered that Hutchinson-Gilford progeria is caused by a tiny, point mutation in a single gene, known as lamin A (LMNA). Parents and siblings of children with progeria are virtually never affected by the disease. In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in the sperm prior to conception. It is remarkable that nearly all cases are found to arise from the substitution of just one base pair among the approximately 25,000 DNA base pairs that make up the LMNA gene. The LMNA gene codes for two proteins, lamin A and lamin C, that are known to play a key role in stabilizing the inner membrane of the cell’s nucleus. In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for Hutchinson-Gilford progeria causes the LMNA gene to produce an abnormal form of the lamin A protein. That abnormal protein appears to destabilize the cell’s nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the cardiovascular and musculoskeletal systems. Interestingly, different mutations in the same LMNA gene have been shown to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In addition to its implications for diagnosis and possible treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed new light on humans’ normal aging process. Possible Complications Heart attack (myocardial infarction) Stroke How we can help children with Progeria? Make a financial contribution. Donations are needed to continue the vital work. No donation is too little or too big – every penny counts in our fight for a cure! Donate your time. Volunteers are also important to success. Hold a special event like a bake sale or letter writing campaign; translate documents for the families; help with a mailing – we’ll find something for you to do that fits your schedule, location and talents! Donate in-kind services or items. Do you own a printing or office supply business? Do you have a background in non-profit development? These are just some of the many types of talents and connections. The more tasks we can get accomplished on a pro bono basis, the more we can spend on research! Spread the word and tap into your connections. Do you know anyone who can do any of the above. Care, Coping and support Learning your child has progeria can be emotionally devastating. Suddenly you know that your child is facing numerous, difficult challenges and a shortened life span. For you and your family, coping with the disorder involves a major commitment of physical, emotional and financial effort. In dealing with a disorder such as progeria, support groups can be a valuable part of a wider network of social support that includes health care professionals, family and friends. In a support group, you’ll be with people who are facing challenges similar to the one that you are. Talking to group members can help you cope with your own feelings about your child’s condition. If a group isn’t for you, talking to a therapist or clergy member may be beneficial. Ask your doctor about self-help groups or therapists in your community. Your local health department, public library, telephone book and the Internet also may be good sources for finding a support group in your area. Helping the child to cope If your child has progeria, he or she is also likely to experience fear and grief as awareness grows that progeria shortens life span. Your child eventually will need your help coping with the concept of death, and may have a number of difficult but important questions about God and religion. Your child also may ask questions about what will happen in your family after he or she dies. It’s critical that you are able to talk openly and honestly with your child, and offer reassurance that’s compatible with your belief system. Ask your doctor, therapist or clergy member to help you prepare for such conversations with your child. Friends who you meet through support groups also may be able to offer valuable guidance. Conclusion and General Discussion Progeria, or Hutchinson-Gilford progeria syndrome, is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight. They also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw (micrognathia); malformation and crowding of the teeth; abnormally prominent eyes; a small, nose; prominent eyes and a subtle blueness around the mouth. In addition, by the second year of life, the scalp hair, eyebrows, and eyelashes are lost (alopecia), and the scalp hair may be replaced by small, downy, white or blond hairs. Additional characteristic features include generalized atherosclerosis, cardiovascular disease and stroke, hip dislocations, unusually prominent veins of the scalp, loss of the layer of fat beneath the skin (subcutaneous adipose tissue), defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities. According to reports in the medical literature, individuals with Hutchinson-Gilford progeria syndrome develop premature, widespread thickening and loss of elasticity of artery walls (arteriosclerosis), which result in life-threatening complications during childhood, adolescence, or early adulthood. Children with progeria die of heart disease (atherosclerosis) at an average age of 13 years, with a range of about eight to 21 years. Progeria is caused by a mutation of the gene LMNA, or lamin A. The lamin A protein is the scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in progeria. Because neither parent carries or expresses the mutation, each case is believed to represent a sporadic, new mutation that happens most notably in a single sperm or egg immediately prior to conception. REFERENCES Ayres, S. C.; Mihan, R. : Progeria: a possible therapeutic approach. (Letter) JAMA 227: 1381-1382, 1974. Brown, W. T. : Human mutations affecting aging–a review. Mech. Aging Dev. 9: 325-336, 1979. Brown, W. T.; Abdenur, J.; Goonewardena, P.; Alemzadeh, R.; Smith, M.; Friedman, S.; Cervantes, C.; Bandyopadhyay, S.; Zaslav, A.; Kunaporn, S.; Serotkin, A.; Lifshitz, F. : Hutchinson-Gilford progeria syndrome: clinical, chromosomal and metabolic abnormalities. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A50 only, 1990. Brown, W. T.; Darlington, G. J. : Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis. Am. J. Hum. Genet. 32: 614-619, 1980. Brown, W. T.; Darlington, G. J.; Arnold, A.; Fotino, M. : Detection of HLA antigens on progeria syndrome fibroblasts. Clin. Genet. 17: 213-219, 1980. Cao, H.; Hegele, R. A. : LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J. Hum. Genet. 48: 271-274, 2003. Dahl, K. N.; Scaffidi, P.; Islam, M. F.; Yodh, A. G.; Wilson, K. L.; Misteli, T. istinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome. Proc. Nat. Acad. Sci. 103: 10271-10276, 2006. DeBusk, F. L. : The Hutchinson-Gilford progeria syndrome. J. Pediat. 80: 697-724, 1972. De Martinville, B.; Sorin, M.; Briard, M. L.; Frezal, J. : Progeria de Gilford-Hutchinson a debut neonatal chez des jumeaux monozygotes. Arch. Fr. Pediat. 37: 679-681, 1980. de Paula Rodrigues, G. H.; das Eiras Tamega, I.; Duque, G.; Spinola Dias Neto, V. : Severe bone changes in a case of Hutchinson-Gilford syndrome. Ann. Genet. 45: 151-155, 2002. De Sandre-Giovannoli, A.; Bernard, R.; Cau, P.; Navarro, C.; Amiel, J.; Boccaccio, I.; Lyonnet, S.; Stewart, C. L.; Munnich, A.; Le Merrer, M.; Levy, N. : Lamin A truncation in Hutchinson-Gilford progeria. Science 300: 2055 only, 2003. Dyck, J. D.; David, T. E.; Burke, B.; Webb, G. D.; Henderson, M. A.; Fowler, R. S. : Management of coronary artery disease in Hutchinson-Gilford syndrome. J. Pediat. 111: 407-410, 1987. Erecinski, K.; Bittel-Dobrzynska, N.; Mostowiec, S. : Zespol progerii u dwoch braci. Pol. Tyg. Lek. 16: 806-809, 1961. Eriksson, M.; Brown, W. T.; Gordon, L. B.; Glynn, M. W.; Singer, J.; Scott, L.; Erdos, M. R.; Robbins, C. M.; Moses, T. Y.; Berglund, P.; Dutra, A.; Pak, E.; Durkin, S.; Csoka, A. B.; Boehnke, M.; Glover, T. W.; Collins, F. S. : Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423: 293-298, 2003. Faivre, L.; Van Kien, P. K.; Madinier-Chappat, N.; Nivelon-Chevallier, A.; Beer, F.; LeMerrer, M. : Can Hutchinson-Gilford progeria syndrome be a neonatal condition? (Letter) Am. J. Med. Genet. 87: 450-452, 1999. Fatunde, O. J.; Benka-Coker, L. B. O.; Scott-Emuakpor, A. B. : Familial occurrence of progeria (Hutchinson-Gilford progeria syndrome). (Abstract) Am. J. Hum. Genet. 47 (suppl.): A55 only, 1990. Fong, L. G.; Frost, D.; Meta, M.; Qiao, X.; Yang, S. H.; Coffinier, C.; Young, S. G. :A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria. Science 311: 1621-1623, 2006. Gabr, M.; Hashem, N.; Hashem, M.; Fahmi, A.; Safouh, M. : Progeria, a pathologic study. J. Pediat. 57: 70-77, 1960. Gilford, H. : Ateleiosis and progeria: continuous youth and premature old age. Brit. Med. J. 2: 914-918, 1904. Glynn, M. W.; Glover, T. W. : Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. Hum. Molec. Genet. 14: 2959-2969, 2005. Goldman, R. D.; Shumaker, D. K.; Erdos, M. R.; Eriksson, M.; Goldman, A. E.; Gordon, L. B.; Gruenbaum, Y.; Khuon, S.; Mendez, M.; Varga, R.; Collins, F. S. : Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc. Nat. Acad. Sci. 101: 8963-8968, 2004. Goldstein, S.; Moerman, E. J. : Heat-labile enzymes in skin fibroblasts from subjects with progeria. New Eng. J. Med. 292: 1305-1309, 1975. Goldstein, S.; Moerman, E. J. : Heat-labile enzymes in circulating erythrocytes of a progeria family. Am. J. Hum. Genet. 30: 167-173, 1978. Harley, C. B.; Goldstein, S.; Posner, B. I.; Guyda, H. : Decreased sensitivity of old and progeric human fibroblasts to a preparation of factors with insulinlike activity. J. Clin. Invest. 68: 988-994, 1981. Hennekam, R. C. M. : Hutchinson-Gilford progeria syndrome: review of the phenotype. Am. J. Med. Genet. 140A: 2603-2624, 2006. Hutchinson, J. : Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet I: 923 only, 1886. Jones, K. L.; Smith, D. W.; Harvey, M. A. S.; Hall, B. D.; Quan, L. : Older paternal age and fresh gene mutation: data on additional disorders. J. Pediat. 86: 84-88, 1975. Khalifa, M. M. : Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance. Clin. Genet. 35: 125-132, 1989. Kirschner, J.; Brune, T.; Wehnert, M.; Denecke, J.; Wasner, C.; Feuer, A.; Marquardt, T.; Ketelsen, U.-P.; Wieacker, P.; Bonnemann, C. G.; Korinthenberg, R. : p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann. Neurol. 57: 148-151, 2005. Labeille, B.; Dupuy, P.; Frey-Follezou, I.; Larregue, M.; Maquart, F. X.; Borel, J. P.; Gallet, M.; Risbourg, B.; Denceux, J. P. : Progeria de Hutchinson-Gilford neonatale avec atteinte cutanee sclerodermiforme. Ann. Derm. Venerol. 114: 233-242, 1987. Lewis, M. : PRELP, collagen, and a theory of Hutchinson-Gilford progeria. Ageing Res. Rev. 2: 95-105, 2003. Luengo, W. D.; Martinez, A. R.; Lopez, R. O.; Basalo, C. M.; Rojas-Atencio, A.; Quintero, M.; Borjas, L.; Morales-Machin, A.; Ferrer, S. G.; Bernal, L. P.; Canizalez-Tarazona, J.; Pena, J.; Luengo, J. D.; Hernandez, J. C.; Chang, J. C. : Del(1)(q23) in a patient with Hutchinson-Gilford progeria. Am. J. Med. Genet. 113: 298-301, 2002. Maciel, A. T. : Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford). Am. J. Med. Genet. 31: 483-487, 1988. Mallampalli, M. P.; Huyer, G.; Bendale, P.; Gelb, M. H.; Michaelis, S. : Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. Proc. Nat. Acad. Sci. 102: 14416-14421, 2005. McKusick, V. A. : The clinical observations of Jonathan Hutchinson. Am. J. Syph. 36: 101-126, 1952. Merideth, M. A.; Gordon, L. B.; Clauss, S.; Sachdev, V.; Smith, A. C. M.; Perry, M. B.; Brewer, C. C.; Zalewski, C.; Kim, H. J.; and 13 others : Phenotype and course of Hutchinson-Gilford progeria syndrome. New Eng. J. Med. 358: 592-604, 2008. Moulson, C. L.; Fong, L. G.; Gardner, J. M.; Farber, E. A.; Go, G.; Passariello, A.; Grange, D. K.; Young, S. G.; Miner, J. H. : Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum. Mutat. 28: 882-889, 2007. Ogihara, T.; Hata, T.; Tanaka, K.; Fukuchi, K.; Tabuchi, Y.; Kumahara, Y. : Hutchinson-Gilford progeria syndrome in a 45-year-old man. Am. J. Med. 81: 135-138, 1986. Parkash, H.; Sidhu, S. S.; Raghavan, R.; Deshmukh, R. N. : Hutchinson-Gilford progeria: familial occurrence. Am. J. Med. Genet. 36: 431-433, 1990. Plasilova, M.; Chattopadhyay, C.; Pal, P.; Schaub, N. A.; Buechner, S. A.; Mueller, H.; Miny, P.; Ghosh, A.; Heinimann, K. : Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J. Med. Genet. 41: 609-614, 2004. Rautenstrauch, T.; Snigula, F.; Krieg, T.;</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/489476654306460021/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=489476654306460021' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/489476654306460021'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/489476654306460021'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2009/12/overview-on-progeria-rare-disease-of.html' title='OVERVIEW ON PROGERIA: A RARE DISEASE OF CHILD Older Fathers and Mutation In Lamin A Gene'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-1746256891795986908</id><published>2009-12-31T08:27:00.000-08:00</published><updated>2009-12-31T08:28:11.722-08:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model."/><title type='text'>Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model.</title><content type='html'>PLoS One. 2009 Dec 30;4(12):e8456. Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model. Smith RG, Kember RL, Mill J, Fernandes C, Schalkwyk LC, Buxbaum JD, Reichenberg A. Medical Research Council Social Genetic and Developmental Psychiatry Centre, King's College London, London, United Kingdom. BACKGROUND: Accumulating evidence from epidemiological research has demonstrated an association between advanced paternal age and risk for several psychiatric disorders including autism, schizophrenia and early-onset bipolar disorder. In order to establish causality, this study used an animal model to investigate the effects of advanced paternal age on behavioural deficits in the offspring. METHODS: C57BL/6J offspring (n = 12 per group) were bred from fathers of two different ages, 2 months (young) and 10 months (old), and mothers aged 2 months (n = 6 breeding pairs per group). Social and exploratory behaviors were examined in the offspring. PRINCIPAL FINDINGS: The offspring of older fathers were found to engage in significantly less social (p = 0.02) and exploratory (p = 0.02) behaviors than the offspring of younger fathers. There were no significant differences in measures of motor activity. CONCLUSIONS: Given the well-controlled nature of this study, this provides the strongest evidence for deleterious effects of advancing paternal age on social and exploratory behavior. De-novo chromosomal changes and/or inherited epigenetic changes are the most plausible explanatory factors. PMID: 20041141 [PubMed - in process] <a href="http://www.ncbi.nlm.nih.gov/pubmed/20041141?itool=Email.EmailReport.Pubmed_ReportSelector.Pubmed_RVDocSum&ordinalpos=1"></a></content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/1746256891795986908/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=1746256891795986908' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/1746256891795986908'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/1746256891795986908'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2009/12/advancing-paternal-age-is-associated.html' title='Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model.'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-604021308357514085</id><published>2009-11-27T06:23:00.000-08:00</published><updated>2009-11-27T06:27:52.335-08:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1 and the history of paternal occupational exposure to heat for both fathers"/><title type='text'>Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1</title><content type='html'><a href="http://www.ncbi.nlm.nih.gov/pubmed/19940763?itool=Email.EmailReport.Pubmed_ReportSelector.Pubmed_RVDocSum&ordinalpos=1">Clin Dysmorphol. 2009 Nov 24. [Epub ahead of print]</a> Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia. Temtamy SA, Aglan MS, Ashour AM, El-Badry TH. Departments of aClinical Genetics bOrodental Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt. In this report, we describe two unrelated Egyptian male infants with limb malformations and constriction rings. The first case is developing normally but has severe limb anomalies, congenital constriction rings, scoliosis because of vertebral anomalies, a left accessory nipple, a small tumor-like swelling on his lower back with tiny skin tubular appendages, a hypoplastic scrotum, and an anchored penis. The second case is developmentally delayed with limb malformations, congenital constriction rings, a lumbar myelomeningeocele, hemangioma, and tiny tubular skin appendages on the back. The patient also had bilateral optic atrophy. The constellation of features in our patients cannot be fully explained by the amniotic disruption complex. The first patient may represent an additional case of the human homolog of the mouse disorganization mutant. The presence of bilateral optic atrophy in the second case, although without an absent septum pellucidum nor other brain anomalies resembles the infrequently reported disorder of septo-optic dysplasia with limb anomalies. Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1 and the history of paternal occupational exposure to heat for both fathers. We draw attention to the phenotypic overlap between the disorganization-like syndrome and septo-optic dysplasia with limb anomalies. PMID: 19940763 [PubMed - as supplied by publisher]</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/604021308357514085/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=604021308357514085' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/604021308357514085'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/604021308357514085'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2009/11/both-cases-were-sporadic-and-could-be.html' title='Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-6056891252003932631</id><published>2009-02-21T18:34:00.001-08:00</published><updated>2009-02-21T18:34:54.196-08:00</updated><title type='text'></title><content type='html'>1: <a href="javascript:AL_get(this,">Paediatr Perinat Epidemiol.</a> 2009 Jan;23(1):29-40.<a href="http://www.ncbi.nlm.nih.gov/entrez/utils/fref.fcgi?PrId=3046&amp;itool=AbstractPlus-def&amp;uid=19228312&amp;db=pubmed&amp;url=http://www3.interscience.wiley.com/resolve/openurl?genre=article&amp;sid=nlm:pubmed&amp;issn=0269-5022&amp;date=2009&amp;volume=23&amp;issue=1&amp;spage=29" target="_blank"></a> Parental age as a risk factor for isolated congenital malformations in a Polish population. <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Materna-Kiryluk%20A%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Materna-Kiryluk A</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Wi%C5%9Bniewska%20K%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Wiśniewska K</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Badura-Stronka%20M%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Badura-Stronka M</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Mejnartowicz%20J%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Mejnartowicz J</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Wieckowska%20B%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Wieckowska B</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Balcar-Boro%C5%84%20A%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Balcar-Boroń A</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Czerwionka-Szaflarska%20M%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Czerwionka-Szaflarska M</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Gajewska%20E%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Gajewska E</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Godula-Stuglik%20U%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Godula-Stuglik U</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Krawczy%C5%84ski%20M%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Krawczyński M</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Limon%20J%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Limon J</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Rusin%20J%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Rusin J</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Sawulicka-Oleszczuk%20H%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Sawulicka-Oleszczuk H</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Szwalkiewicz-Warowicka%20E%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Szwalkiewicz-Warowicka E</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Walczak%20M%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Walczak M</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Latos-Biele%C5%84ska%20A%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Latos-Bieleńska A</a>. Department of Medical Genetics, Karol Marcinkowski University of Medical Sciences, Poznan, Poland. Summary Materna-Kiryluk A, Wiśniewska K, Badura-Stronka M, Mejnartowicz J, Wieckowska B, Balcar-Boroń A, Czerwionka-Szaflarska M, Gajewska E, Godula-Stuglik U, Krawczyński M, Limon J, Rusin J, Sawulicka-Oleszczuk H, Szwalkiewicz-Warowicka E, Walczak M, Latos-Bieleńska A. Parental age as a risk factor for isolated congenital malformations in a Polish population. Paediatric and Perinatal Epidemiology 2009; 23: 29-40.Currently available data on the relationship between the prevalence of isolated congenital malformations and parental age are inconsistent and frequently divergent. We utilised the data from the Polish Registry of Congenital Malformations (PRCM) to accurately assess the interplay between maternal and paternal age in the risk of isolated non-syndromic congenital malformations. Out of 902 452 livebirths we studied 8683 children aged 0-2 years registered in the PRCM. Logistic regression was used to simultaneously adjust the risk estimates for maternal and paternal age. Our data indicated that paternal and maternal age were independently associated with several congenital malformations. Based on our data, young maternal and paternal ages were independently associated with gastroschisis. In addition, young maternal age, but not young paternal age, carried a higher risk of neural tube defects. Advanced maternal and paternal ages were both independently associated with congenital heart defects. Moreover, there was a positive association between advanced paternal age and hypospadias, cleft palate, and cleft lip (with or without cleft palate). No significant relationships between parental age and the following congenital malformations were detected: microcephaly, hydrocephaly, oesophageal atresia, atresia or stenosis of small and/or large intestine, ano-rectal atresia or stenosis, renal agenesis or hypoplasia, cystic kidney disease, congenital hydronephrosis, diaphragmatic hernia and omphalocele. PMID: 19228312 [PubMed - in process]</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/6056891252003932631/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=6056891252003932631' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/6056891252003932631'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/6056891252003932631'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2009/02/1-paediatr-perinat-epidemiol.html' title=''/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-3939899718438057456</id><published>2009-02-20T08:15:00.000-08:00</published><updated>2009-02-20T08:16:21.932-08:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Why are the wealthy corporate monied families in America funding the research at genome labs?"/><title type='text'>Why are the wealthy corporate monied families in America funding the research at genome labs?</title><content type='html'><a title="View Details: Why are the wealthy corporate monied families in America funding the research at genome labs?" href="http://www.hemophiliatoday.co.cc/why-are-the-wealthy-corporate-monied-families-in-america-funding-the-research-at-genome-labs/" rel="bookmark">Why are the wealthy corporate monied families in America funding the research at genome labs?</a> <a href="http://www.hemophiliatoday.co.cc/wp-content/uploads/cc/hemophilia319.jpg"></a> Alex asked: Are <a class="st_tag internal_tag" title="Posts tagged with Genetic Disease" href="http://www.hemophiliatoday.co.cc/tag/genetic-disease/" rel="tag nofollow">genetic disease</a> and disorders caused by older paternal age and will there never be cures or for Alzheimer’s, <a class="st_tag internal_tag" title="Posts tagged with Diabetes" href="http://www.hemophiliatoday.co.cc/tag/diabetes/" rel="tag nofollow">diabetes</a>, MS, hemophilia, autism, schizophrenia,<a class="st_tag internal_tag" title="Posts tagged with Cancers" href="http://www.hemophiliatoday.co.cc/tag/cancers/" rel="tag nofollow">cancers</a> because in non-familial cases they are basic degradations of the human genome caused by genetic copy number variations? <a class="a2a_dd addtoany_share_save" href="http://www.addtoany.com/share_save?sitename=Hemophilia%20Today&amp;siteurl=http%3A%2F%2Fwww.hemophiliatoday.co.cc%2F&amp;linkname=Why%20are%20the%20wealthy%20corporate%20monied%20families%20in%20America%20funding%20the%20research%20at%20genome%20labs%3F&amp;linkurl=http%3A%2F%2Fwww.hemophiliatoday.co.cc%2Fwhy-are-the-wealthy-corporate-monied-families-in-america-funding-the-research-at-genome-labs%2F" target="_blank" a2a_index="0"></a> Related posts <a title="if you have type 2 diabetes, do you have hemophilia? (December 24, 2008)" href="http://www.hemophiliatoday.co.cc/if-you-have-type-2-diabetes-do-you-have-hemophilia/">if you have type 2 diabetes, do you have hemophilia?</a> (5) <a title="How is Queen Elizabeth in such good health? (March 6, 2008)" href="http://www.hemophiliatoday.co.cc/how-is-queen-elizabeth-in-such-good-health/">How is Queen Elizabeth in such good health?</a> (22) <a title="Is there any way you can have diabetes and hemophilia? (December 13, 2008)" href="http://www.hemophiliatoday.co.cc/is-there-any-way-you-can-have-diabetes-and-hemophilia/">Is there any way you can have diabetes and hemophilia?</a> (2)</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/3939899718438057456/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=3939899718438057456' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/3939899718438057456'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/3939899718438057456'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2009/02/why-are-wealthy-corporate-monied.html' title='Why are the wealthy corporate monied families in America funding the research at genome labs?'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-5829386701748060655</id><published>2009-01-21T14:40:00.000-08:00</published><updated>2009-01-21T14:41:27.283-08:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Men also have a biological clock"/><title type='text'>Men also have a biological clock</title><content type='html'><a href="http://www.upi.com/Health_News/2009/01/21/Men_also_have_a_biological_clock/UPI-78791232571892/">Men also have a biological clock </a> Published: Jan. 21, 2009 at 4:04 PMOrder reprints | Feedback VALENCIA, Spain, Jan. 21 (UPI) -- Mammalian males can reproduce until late in life, but their children may have more abnormalities, researchers in Spain said. Although mammalian males can reproduce until late in life, evidence of hazards to offspring has emerged in human and animal models, the researchers said. Silvia Garcia-Palomares of the University of Valencia in Spain and colleagues said that their study, published in the Biology of Reproduction, provides clear, well-controlled data of deleterious effects on the offspring of aged male mice mated to females of prime reproductive age. The offspring from the elderly males exhibit abnormalities not only in several behavioral traits, but also in reproductive fitness and longevity -- the offspring fathered by old mice had a shorter life span. Moreover, mating the offspring from aged males resulted in the production of pups exhibiting decreased weights at weaning when compared with pups from the offspring of younger males. Garcia-Palomares said the defects causing these abnormalities in offspring are unknown and should be the objective of intriguing studies in the future.</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/5829386701748060655/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=5829386701748060655' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/5829386701748060655'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/5829386701748060655'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2009/01/men-also-have-biological-clock.html' title='Men also have a biological clock'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-524628938774769780</id><published>2009-01-15T22:14:00.000-08:00</published><updated>2009-01-15T22:16:43.550-08:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="but the reality of a male biological clock makes this trend worrisome"/><category scheme="http://www.blogger.com/atom/ns#" term="Older men are having children"/><title type='text'>Older men are having children, but the reality of a male biological clock makes this trend worrisome</title><content type='html'><a href="http://geriatrics.modernmedicine.com/geriatrics/Modern+Medicine+Now/Older-men-are-having-children-but-the-reality-of-a/ArticleStandard/Article/detail/575098?ref=25">Older men are having children, but the reality of a male biological clock makes this trend worrisome</a> Feature Article Publish date: Jan 15, 2009 By: Harry Fisch, MD Source: Geriatrics | Pages | 1 | 2 | 3 | 4 Dr Fisch is Professor of Clinical Urology, Department of Urology, Columbia University College of Physicians and Surgeons, Columbia University Medical Center, New York City. Disclosure: The author states that he has no financial relationship with any manufacturers in this area of medicine. ABSTRACT Couples are waiting longer to have children, and advances in reproductive technology are allowing older men and women to consider having children. The lack of appreciation among both medical professionals and the lay public for the reality of a male biological clock makes these trends worrisome. The age-related changes associated with the male biological clock affect sperm quality, fertility, hormone levels, libido, erectile function, and a host of non-reproductive physiological issues. This article focuses on the potentially adverse effects of the male biological clock on fertility in older men. Advanced paternal age increases the risk for spontaneous abortion as well as genetic abnormalities in offspring due to multiple factors, including DNA damage from abnormal apoptosis and reactive oxygen species. Increased paternal age is also associated with a decrease in semen volume, percentage of normal sperm, and sperm motility. Older men considering parenthood should have a thorough history and physical examination focused on their sexual and reproductive capacity. Such examination should entail disclosure of any sexual dysfunction and the use of medications, drugs, or lifestyle factors that might impair fertility or sexual response. Older men should also be counseled regarding the effects of paternal age on spermatogenesis and pregnancy. Fisch H. The aging male and his biological clock. Geriatrics. 2009;64(1):14-17. Keywords: apoptosis, hypogonadism, male biological clock, male infertility, paternal age, spermatogenesis, testosterone The phrase "biological clock" commonly refers to the declining fertility, increasing risk for fetal birth defects, and altered hormone levels experienced by women as they age. Abundant scientific evidence suggests that men also have a biological clock.1,2 The hormonal and physiological effects of the male clock are linked with testosterone and fertility declines, as well as pregnancy loss and an increased risk of birth defects.3 In this article, we review the effects of the male biological clock, and the association between advanced paternal age and decreased spermatogenesis, pregnancy rates, and birth outcomes. Male testosterone levels (both total and free) decline roughly 1% per year after age 30.4 The rate of decline in one study4 was not significantly different between healthy men and those with chronic illnesses or multiple comorbidities. This decline can shift men whose testosterone levels are in the low end of the normal spectrum to levels considered below-normal, or hypogonadal (testosterone <325 ng/mL) as they age. An estimated 2 to 4 million men in the United States fall in this category, either from age-related declines, illness, injury, or congenital conditions.5 The population of hypogonadal men is increasing due both to the aging of the general population and unknown factors that appear to be suppressing the average levels of testosterone in more recent birth cohorts.6 The increasing prevalence of abnormally low testosterone levels in elderly men was demonstrated in the Baltimore Longitudinal Study on Aging, which determined that hypogonadal testosterone levels were present in approximately 20% of men over 60, 30% over 70, and 50% over 80 years of age.7 Sub-normal testosterone levels are associated not only with decrements in fertility and sexual response, but also a wide range of other health problems such as declines in muscle mass/strength, energy levels, and cognitive function, as well as increased incidence of weight gain (particularly central adiposity), type 2 diabetes, the metabolic syndrome, and cardiovascular disease. Testosterone replacement therapy to address the wide range of health problems related to hypogonadism is becoming increasingly popular. Delivery via gels or transdermal patches can result in physiologically normal levels of testosterone, which is preferable to the spiky levels obtained via testosterone injections. Oral formulations are under development but none have progressed beyond the clinical trial phase. Fears that testosterone replacement therapy may promote the growth of prostate carcinomas has abated in light of findings from several studies that find no such link.8 Pages | 1 | 2 | 3 | 4 Declining fertility and increasing birth defects It has long been recognized that female fertility declines with age and, obviously, ceases with menopause. Only relatively recently, however, has it been proven that male fertility also declines with age—often significantly so—and that semen quality and the related risk for birth defects is also sensitive to aging. Studies demonstrate that men older than age 35 are twice as likely to be infertile (defined as the inability to initiate a pregnancy within 12 months) as men younger than 25 years.9 Among couples undergoing fertility treatments with intra-uterine insemination, the amount of time necessary to achieve a pregnancy rises significantly with the age of the male. Further, after controlling for maternal age, couples in which the male is older than 35 have a 50% lower pregnancy rate compared with couples in which men are 30 or younger.10 The risk of birth defects is also now known to be related to paternal age. A significant association has been found between advancing paternal age and the risk of autism spectrum disorder (ASD) in children.11 Offspring of men 40 years or older were 5.75 times more likely to have ASD compared with offspring of men younger than 30 years, after controlling for year of birth, socioeconomic status, and maternal age. Another study finds a link between paternal age and a higher risk of fathering a child with schizophrenia.12 Men older than 40 were more than twice as likely to have a child with schizophrenia as men in their 20s. A similar influence of paternal age on the risk of having a child with Down syndrome has been reported by several research teams,1 with paternal age a factor in half the cases of Down syndrome when maternal age exceeded 35 years. Other investigators have found that the rate of miscarriages increases with rising paternal age when maternal age was older than 35.13 Thus, there is convincing evidence for an effect of paternal age alone, as well as a combined effect of advancing paternal and maternal age, on increased risks of genetic abnormalities leading to miscarriage or disease in their children. A retrospective multi-center European study revealed that the effects of advanced paternal age and maternal age are cumulative. If both partners are advanced in age, the risk of spontaneous abortion is higher. Mechanisms behind biological clock effects The precise genetic and physiological malfunctions underlying the observed links between advanced paternal age and congenital abnormalities remain uncertain although clues have been discovered in recent years. Studies in the murine model, for example, have shown that changes in testicular architecture affect semen quality. At 18 months (defined as "older" in a mouse), several age-related changes occur, including increased number of vacuoles in germ cells and thinning of the seminiferous epithelium. At the age of 30 months, seminiferous epithelia with scant spermatocytes were identified. Overall, total sperm production was significantly reduced and mutation frequency was significantly increased in "older" mice.14 Such changes in testicular architecture, as well as changes in the germinal epithelium, prostatic epithelium, and a host of genetic alterations, undoubtedly underlie the well-documented declines in human semen parameters observed over the years. The literature (11 of 16 published studies) clearly shows, for example, a decrease in semen volume with advanced age. In 2 studies, which adjusted for the confounder of abstinence duration, a decrease in semen volume of 0.15-0.5% was reported for each increase in year of age.15 The semen volume of men aged 50 or older was decreased by 20-30% when compared with men younger than age 30. An association between advanced paternal age and decreased sperm motility is also apparent. In a review of 19 studies, 13 found a decrease in sperm motility with increasing age. Five studies adjusted for the duration of abstinence—a key potential confounder—and found statistically significant declines. A comparison of men age 50 or older to men younger than 30, revealed a 3% to 37% decline in motility. Abnormal sperm morphology is also tied to advanced paternal age. In 14 studies reviewed, 9 studies found decreases in the percentage of normal sperm with advancing age with the rates of decline ranging from 0.2% per year to 0.9% per year of age when controlling for confounders of duration of abstinence and year of birth.16 Older men are having children, but the reality of a male biological clock makes this trend worrisomeFeature Article Publish date: Jan 15, 2009 By: Harry Fisch, MD Source: Geriatrics Email|Print| Share • Del.icio.us • Digg • Reddit • Facebook |Save|License |Discuss On Sermo Pages | 1 | 2 | 3 | 4 The male biological clock also "ticks" at the level of genes. The genetic integrity of sperm has been shown in several studies to decline with age. For example, age is associated with declines in the number of Leydig and Sertoli cells, as well as with an increase in arrested division of germ cells. There also seems to be an increasing failure of the body's ability to "weed out" genetically inferior sperm cells via the mechanism of apoptosis. Spermatozoa are continuously produced and undergo lifelong replication, meiosis, and spermatogenesis. An essential aspect of spermatogenesis that ensures selection of normal DNA is the process of apoptosis of sperm with damaged DNA. Since the rate of genetic abnormalities (such as double-strand breaks) during spermatogenesis increases as men age, the rate of apoptosis should rise as well. This, however, does not seem to be the case, for reasons that remain unknown, which results in higher levels of genetically damaged sperm in older men. Oxidative stress may also play a role in the observed rise in the frequency of numerical and structural aberrations in sperm chromosomes with increasing paternal age. Spermatozoa have low concentrations of antioxidant scavenging enzymes, which makes them particularly susceptible to DNA damage from reactive oxygen species. A recent study found that seminal reactive oxygen species levels are significantly elevated in men older than 40 years of age.17 Aneuploidy errors in germ cell lines also occur at higher rates with advancing paternal age. The aneuploidy error of trisomy 21, for example, is responsible for Down syndrome. The rate of many autosomal dominant disorders such as Apert syndrome, achrondroplasia, osteogenesis imperfecta, progeria, Marfan syndrome, Waardenburg syndrome, and thanatophoric dysplasia increases with advanced paternal age. Apert syndrome, for example, is the result of an autosomal dominant mutation on chromosome 10, mutating fibroblast growth factor receptor 2 (FGFR2). With increasing paternal age, the incidence of sporadic Apert syndrome increases exponentially, resulting in part from an increased frequency of FGFR2 mutations in the sperm of older men. The role of medications and comorbidities The effects of the male biological clock can be exacerbated by both medications and comorbidities. Pharmacologically mediated fertility declines and/or sexual dysfunction has been demonstrated for antihypertensive drugs, antidepressants, and hormonal agents. Seminal emission can be blocked by alpha blocker medications, which are used to treat many symptoms of the lower urinary tract. Gonadotropin-releasing hormone agonists, which are used for prostate cancer treatment, can directly affect sperm production and testosterone levels. High doses of anabolic steroids, sometimes used for enhancement of performance and muscle enlargement, cause reduction of sperm production, which may be permanent. Erectile dysfunction, ejaculatory disorders, and decreased libido can be caused by the 5-alpha reductase inhibitors. Sexual function and reproductive function can substantially decline in males treated for prostate cancer. Treatments such as radiotherapy, surgery or hormones, alone or in combination, can result in these dysfunctions in treated men of any age, though the severity of effects increases with age. A report found that ultrasound-guided needle biopsy of the prostate was associated with some abnormal semen parameters.18 Since prostate biopsy is more common in men 50 or older, this can be an issue for older would-be fathers. Conclusions The fact that men and women are waiting longer to have children, and that advances in reproductive technology are allowing older men and women to consider having children, carries a generally unrecognized public health risk in the form of increased infertility and risk for birth defects and other reproductive problems. CDC birth statistics show the average maternal age rose from 21.4 years of age in 1974 to 25.1 years of age in 2003. Paternal age is rising as well. The lack of appreciation among both medical professionals and the lay public for the reality of a male biological clock makes these trends worrisome. This article has demonstrated a host of potential reproductive problems among older men. Semen parameters as well as semen genetic integrity decline with age, which leads to an increased risk for spontaneous abortion as well as genetic abnormalities in offspring. The decreasing apoptotic rate and increase in reactive oxygen species among the rapidly replicating spermatogonia are possible mechanisms behind an amplification of errors in germ cell lines of older men. Such errors may account for the observed increases in Down syndrome, schizophrenia, and autosomal dominant disorders in children born to older fathers. Older men are having children, but the reality of a male biological clock makes this trend worrisomeFeature Article Publish date: Jan 15, 2009 By: Harry Fisch, MD Source: Geriatrics Email|Print| Share • Del.icio.us • Digg • Reddit • Facebook |Save|License |Discuss On Sermo Pages | 1 | 2 | 3 | 4 Future research may elucidate in greater detail the etiology and manifestation of the male biological clock in older men. Novel methods to reverse or slow the clock may be discovered by improved understanding of the cellular and biochemical mechanisms of gonadal aging. This research may diminish potential adverse genetic consequences in offspring and increase the chances that older couples will have a healthy child. References 1. Fisch H, Hyun G, Golden R, et al. The influence of paternal age on Down syndrome. J Urol. 2003:169(6):2275-2278. 2. Eskenazi B, Wyrobek AJ, Sloter E, et al. The association of age and semen quality in healthy men. Hum Reprod. 2003;18(2):447-454. 3. Lewis BH, Legato M, Fisch H. Medical implications of the male biological clock. JAMA. 2006;296(19):2369-2371. 4. Feldman HA, Longcope C, Derby CA, et al. Age trends in the level of serum testosterone and other hormones in middle-aged men: longitudinal results from the Massachusetts male aging study. J Clin Endocrinol Metab. 2002;87(2):589-598. 5. Rhoden EL, Morgentaler A. Risks of testosterone-replacement therapy and recommendations for monitoring. N Engl J Med. 2004;350(5):482-492. 6. Travison TG, Araujo AB, O'Donnell AB, et al. A population-level decline in serum testosterone levels in American men. J Clin Endocrinol Metab. 2007;92(1):196-202. 7. Harman SM, Metter EJ, Tobin JD, et al. Longitudinal effects of aging on serum total and free testosterone levels in healthy men. Baltimore Longitudinal Study of Aging. J Clin Endocrinol Metab. 2001;86(2):724-731. 8. Imamoto T, Suzuki H, Yano M, et al. The role of testosterone in the pathogenesis of prostate cancer. Int J Urol. 2008;15(6):472-480. 9. Ford WC, North K, Taylor H, et al. Increasing paternal age is associated with delayed conception in a large population of fertile couples: evidence for declining fecundity in older men. Hum Reprod. 2000;15(8):1703-1708. 10. Mathieu C, Ecochard R, Bied V. Cumulative conception rate following intrauterine artificial insemination with husband's spermatozoa: influence of husband's age. Hum Reprod. 1995;10(5):1090-1097. 11. Reichenberg A, Gross R, Weiser M, et al. Advancing Paternal Age and Autism. Arch Gen Psychiatry. 2006;63(9):1026-1032. 12. Malaspina D, Harlap S, Fennig S, et al. Advancing Paternal Age and the Risk of Schizophrenia. Arch Gen Psychiatry. 2001;58(4):361-367. 13. de la Rochebrochard E, Thonneau P. Paternal age and maternal age are risk factors for miscarriage: results of a multicentre European study. Hum Reprod. 2002;17(6):1649-1656. 14. Walter CA, Intano GW, McCarrey JR, et al. Mutation frequency declines during spermatogenesis in young mice but increases in old mice. Proc Natl Acad Sci. 1998;95(17):10015-10019. 15. Andolz P, Bielsa MA, Vila J. Evolution of semen quality in North-eastern Spain: a study in 22,759 infertile men over a 36 year period. Hum Reprod. 1999;14(3):731-735. 16. Auger J, Kunstmann JM, Czyglik F, et al. Decline in semen quality among fertile men in Paris during the past 20 years. N Engl J Med. 1995;332(5):281-285. 17. Cocuzza M, Athayde KS, Agarwal A, et al. Age-related increase of reactive oxygen species in neat semen in healthy fertile men. Urology. 2008;71(3):490-494. 18. Manoharan M, Ayyathurai R, Nieder AM, Soloway MS. Hemospermia following transrectal ultrasound-guided prostate biopsy: a prospective study. Prostate Cancer Prostatic Dis. 2007;10(3):283-287. • http://geriatrics.modernmedicine.com/geriatrics/article/articleDetail.jsp?id=575098&pageID=1&sk=&date= http://geriatrics.modernmedicine.com/geriatrics/article/articleDetail.jsp?id=575098&sk=&date=&pageID=2 http://geriatrics.modernmedicine.com/geriatrics/article/articleDetail.jsp?id=575098&sk=&date=&pageID=3 http://geriatrics.modernmedicine.com/geriatrics/article/articleDetail.jsp?id=575098&sk=&date=&%0A%09%09%09&pageID=4</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/524628938774769780/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=524628938774769780' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/524628938774769780'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/524628938774769780'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2009/01/older-men-are-having-children-but.html' title='Older men are having children, but the reality of a male biological clock makes this trend worrisome'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-3644335824654575265</id><published>2008-12-05T08:24:00.000-08:00</published><updated>2008-12-05T08:25:35.115-08:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Older paternal age and fresh gene mutation: data on additional disorders"/><title type='text'>Older paternal age and fresh gene mutation: data on additional disorders</title><content type='html'>Pediatr. 1975 Jan;86(1):84-8.Related Articles, Links Older paternal age and fresh gene mutation: data on additional disorders. Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. It was also found to be a factor in acrodysostosis and progeria, suggesting a fresh mutant gene etiology for these two conditions in which virtually all cases have been sporadic and the mode of genetic etiology has been unknown. Publication Types: Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S. PMID: 1110452 [PubMed - indexed for MEDLINE]</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/3644335824654575265/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=3644335824654575265' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/3644335824654575265'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/3644335824654575265'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/12/older-paternal-age-and-fresh-gene.html' title='Older paternal age and fresh gene mutation: data on additional disorders'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-2233218799115846824</id><published>2008-12-01T10:37:00.001-08:00</published><updated>2008-12-01T10:37:48.839-08:00</updated><title type='text'>Paternal age: are the risks of infecundity and miscarriage higher when the man is aged 40 years or over?</title><content type='html'>Rev Epidemiol Sante Publique. 2005 Nov;53 Spec No 2:2S47-55.Related Articles, Links Paternal age: are the risks of infecundity and miscarriage higher when the man is aged 40 years or over? De La Rochebrochard E, Thonneau P. Unité Inserm-Ined 569, Hôpital de Bicêtre, 82, rue du Général-Leclerc, 94276 Le Kremlin-Bicêtre. roche@ined.fr BACKGROUND: Maternal age of 35 years or over is a well-known risk factor for human reproduction that has been extensively investigated by demographers and epidemiologists. However, the possibility of a paternal age effect has rarely been considered. We carried out review of the literature to investigate the effect of paternal age on the risks of infecundity and miscarriage. METHODS: We carried out a MEDLINE search and checked the exhaustiveness of our reference list. RESULTS: We identified 19 articles analysing the effect of paternal age. Epidemiological studies provided evidence that paternal age older than 35-40 years affects infecundity. However, the few studies based on data from assisted reproductive techniques (especially IVF with ovum donation) do not confirm this finding. All studies analysing the effect of paternal age on the risk of miscarriage showed an increased risk in men aged 35-40 years or over. Other studies have shown some evidence for a paternal age effect on late foetal deaths. CONCLUSION: The risks of infecundity and miscarriage increase with paternal age. Two main hypotheses can be considered. First, these risks increase after the age of 35-40 years. However, a later paternal age effect (after 45-50 years) cannot be excluded. Second, due to the interaction of the ages of the two partners, the risks of infecundity and miscarriage may be higher when both partners are older (woman aged 35 years or over and man aged 40 years or over). Publication Types: Review PMID: 16471144 [PubMed - indexed for MEDLINE]</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/2233218799115846824/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=2233218799115846824' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/2233218799115846824'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/2233218799115846824'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/12/paternal-age-are-risks-of-infecundity.html' title='Paternal age: are the risks of infecundity and miscarriage higher when the man is aged 40 years or over?'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-2063408951119991244</id><published>2008-11-25T06:30:00.000-08:00</published><updated>2008-11-25T06:31:28.593-08:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Sperm DNA Damage: Correlation To Severity Of Semen Abnormalities"/><title type='text'>Sperm DNA Damage: Correlation To Severity Of Semen Abnormalities</title><content type='html'>Sperm DNA Damage: Correlation To Severity Of Semen Abnormalities Main Category: Fertility Also Included In: Urology / Nephrology; Genetics Article Date: 24 Nov 2008 - 1:00 PST email to a friend printer friendly view / write opinions rate article Ads by Google Current Article Ratings: Patient / Public: 5 (1 votes) Health Professional: Article Opinions: 0 posts SAN FRANCISCO, CA, USA (UroToday.com) - Evaluation of male fertility includes assessment of the standard semen parameters (SSP) and may include assessment of DNA damage. However, the relationship between DNA damage and SSP remains controversial. This study examined the the relationship of DNA damage to SSP in patients presenting for infertility evaluation. The authors conducted an IRB approved retrospective review of semen samples from 2586 unselected non-azoospermic patients underwent computer-assisted semen analysis and flow cytometry based sperm DNA damage assessment expressed as the DNA Fragmentation Index (DFI). DFI was significantly negatively correlated to sperm concentration, motility, and normal morphology and positively correlated to age (P<0.001). DNA damage increased in relationship to the number of abnormalities in the SSP (P <0.001). The authors concluded: 1. DNA damage is significantly related to standard parameters of semen analysis 2. DNA damage is significantly related to age 3. The degree of DNA damage increases with the number of abnormal parameters in a sample and is most severe in patients with oligo-astheno-teratospermia (OAT). Editorial Comments: The authors demonstrate the relationship between progressively more abnormal semen parameters and abnormal DFI. This is consistent with clinical observations and does not appear to demonstrate any incremental value to DFI assessment, in clinical practice, in the initial assessment of the infertile male. Presented by S. I. Moskovtsev, J. Willis, and J. White, et al., at the 64th Annual Meeting of the American Society for Reproductive Medicine - November 8 - 12, 2008 - San Francisco, California Reported by UroToday.com Contributing Editor Harris M. Nagler, MD UroToday - the only urology website with original content written by global urology key opinion leaders actively engaged in clinical practice. To access the latest urology news releases from UroToday, go to: www.urotoday.com Copyright © 2008 - UroToday</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/2063408951119991244/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=2063408951119991244' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/2063408951119991244'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/2063408951119991244'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/11/sperm-dna-damage-correlation-to.html' title='Sperm DNA Damage: Correlation To Severity Of Semen Abnormalities'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-7386508077246341290</id><published>2008-11-08T09:36:00.000-08:00</published><updated>2008-11-08T09:39:07.227-08:00</updated><title type='text'>His advice? "If my son or daughter was to ask, I'd tell them to have kids early -- and that's before 30."</title><content type='html'><a href="http://www.canada.com/topics/news/story.html?id=b4914025-d7f2-46c6-bcbd-2d4c50b06aeb&p=1">Yo, dude, check your bio clock -- now</a> New studies warn that it isn't just women who become less fertile as they age Sarah Treleaven , The Ottawa Citizen Recently, I've had a lot of conversations about baby-making with my male friends. "I worry that I might be too selfish to ever have children," said my friend Joe, 29, somewhat pensively over gin and cucumber cocktails. Ditto for Colin, who just broke up with a woman he loves because she wants to have kids in the next few years and, at 35, he just doesn't feel ready yet. Kids or no, they both feel like they have all the time in the world to decide. I, on the other hand, just turned 30 and have been making a lot of jokes about needing an apartment with a second bedroom for my soon-to-be-frozen eggs. Email to a friend Printer friendly Font:****Lots of women wring their hands about having a baby. Not only do we have to worry about our plummeting fertility (which begins to tank in our mid-20s), but we also have to worry about job retention and advancement once those kids (come biology, adoption or surrogacy) eventually appear. And it's the physical limitations of the female ability to procreate that have placed such a heavy emphasis on the reproductive biological clock, shaping the way many women live, work and even date. But evidence is increasingly emerging that men, too, have a reproductive biological clock -- and that it ticks much more loudly than most of us have thought. Even as stories occasionally emerge about septuagenarian and octogenarian men becoming proud papas -- author Saul Bellow, for example, fathered a child at 84 -- several recent studies are challenging the conventional wisdom that men have an invincible ability to procreate. A French study released in July found that women's pregnancy rates drop and miscarriages increase when the mother is over 35 and the father is over 40. Another study suggests that a man's fertility begins to decrease as early as his 20s. Researchers from the University of California at Berkeley and the Lawrence Livermore National Laboratory tested men between the ages of 22 and 80, and found that semen volume and sperm motility were both significantly compromised by aging. Additionally, the increased odds for older fathers producing genetic abnormalities have been well documented, and studies have demonstrated that fathers over 40 are six times more likely to produce an autistic child than fathers under 30. The numbers related to schizophrenia are similarly compelling. A study utilizing health databases in Jerusalem found that fathers over 40 were twice as likely to produce schizophrenic children as fathers who were under 25; for fathers over 50, the odds tripled when compared to fathers who were under 25. Dr. Harry Fisch, director of the Male Reproductive Center at New York-Presbyterian Hospital/Columbia University Medical Center and the author of The Male Biological Clock, says that he's been ringing the alarm bell for years. "There's a female biological clock; we all agree on the decline in fertility, more genetic problems and a decline in estrogen. "The same thing happens in men -- a little bit differently, but essentially the same," Fisch says. "Why is it important? Well, demographically more men and women are waiting until they're over 30 to have a baby." 1 2 3 next page</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/7386508077246341290/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=7386508077246341290' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/7386508077246341290'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/7386508077246341290'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/11/his-advice-if-my-son-or-daughter-was-to.html' title='His advice? "If my son or daughter was to ask, I'd tell them to have kids early -- and that's before 30."'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-5017728415425811525</id><published>2008-10-31T13:23:00.000-07:00</published><updated>2008-10-31T13:24:23.576-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Seasonal Affective Disorder May Be Linked to Genetic Mutation"/><title type='text'>Seasonal Affective Disorder May Be Linked to Genetic Mutation,</title><content type='html'><a href="http://media-newswire.com/release_1077795.html">Seasonal Affective Disorder May Be Linked to Genetic Mutation, Study Suggests October 30, 2008 - With the days shortening toward winter, many people will begin to experience the winter blahs. For some, the effect can be devastating. About 6 percent of the U.S. population suffers from seasonal affective disorder, or SAD, a sometimes-debilitating depression that begins in the fall and continues through winter. Sufferers may even find it difficult to get out of bed in the morning.</a> (Media-Newswire.com) - October 30, 2008 — With the days shortening toward winter, many people will begin to experience the winter blahs. For some, the effect can be devastating. About 6 percent of the U.S. population suffers from seasonal affective disorder, or SAD, a sometimes-debilitating depression that begins in the fall and continues through winter. Sufferers may even find it difficult to get out of bed in the morning. • Ignacio Provencio discusses Seasonal Affective Disorder The disorder, which is not well understood, is often treated with "light therapy," where a SAD patient spends time each morning before a bank of bright lights in an effort to trick the brain into believing that the days are not so short or dim. A new study indicates that SAD may be linked to a genetic mutation in the eye that makes a SAD patient less sensitive to light. "These individuals may require brighter light levels to maintain normal functioning during the winter months," said Ignacio Provencio, a University of Virginia biology professor who studies the genetics of the body's biological clock, or circadian rhythms. Provencio and his colleagues have discovered that melanopsin, a photopigment gene in the eye, may play a role in causing SAD in people with a recently discovered mutation. "We believe that the mutation could contribute to increasing the amount of light needed for normal functioning during winter for people with SAD," Provencio said. "Lack of adequate light may be a trigger for SAD, but not the only explanation for the disorder." The findings are published in the online edition of the Journal of Affective Disorders, and will appear later in the print version. The study was conducted with several other institutions, including the National Institute of Mental Health. It involved 220 participants, 130 of whom had been diagnosed with SAD and 90 participants with no history of mental illness. Using a genetics test, the study authors found that seven of the 220 participants carried two copies of the mutation that may be a factor in causing SAD, and, strikingly, all seven belonged to the SAD group. "While a person diagnosed with SAD does not necessarily carry the melanopsin mutation, what we found strongly indicates that people who carry the mutation could very well be diagnosed with SAD," Provencio said. "We think that if an individual has two copies of this gene, he or she has a reasonable chance of having the disorder." The researchers found that a person with two copies of the gene is five times more likely to have symptoms of SAD than a person without the mutation. "That is a very high effect for a mental illness, because most mental illnesses have many potential causes," Provencio noted. "A mental illness may arise from many mutations, and we have found one that has a clear link." The melanopsin gene encodes a light-sensitive protein that is found in a class of photoreceptors in the retina that are not involved with vision, but are linked to many non-visual responses, such as the control of circadian rhythms, the control of hormones, the mediation of alertness and the regulation of sleep. The mutation in this gene may result in aberrant regulation of these responses to light, leading to the depressive symptoms of SAD. About 29 percent of SAD patients come from families with a history of the disorder, suggesting a genetic or hereditary link. "The finding suggest that melanopsin mutations may predispose some people to SAD, and that if you have two copies of this mutation, there is a very high probability that you will be afflicted," Provencio said. "An eventual understanding of the mechanisms underlying the pathological response to light in SAD may lead to improved treatments." Provencio added that the finding, with further study, could also lead to improved testing for SAD. Provencio's colleague and lead author in the study is Kathryn Roecklein, an assistant professor of psychology at the University of Pittsburgh.</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/5017728415425811525/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=5017728415425811525' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/5017728415425811525'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/5017728415425811525'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/10/seasonal-affective-disorder-may-be.html' title='Seasonal Affective Disorder May Be Linked to Genetic Mutation,'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-1812460192436866927</id><published>2008-10-23T08:26:00.000-07:00</published><updated>2008-10-23T08:27:18.191-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="The report said there was significant DNA damage to sperm in samples from men over the age of 35."/><title type='text'>The report said there was significant DNA damage to sperm in samples from men over the age of 35.</title><content type='html'>Oct 23 2008 Men have their own biological clock Published by Times of the Internet at 3:34 am under Top News SYDNEY, Oct. 22 (UPI) — An Australian study suggests men have a biological clock that signals a drop in fertility after the age of 35. <a href="http://poplife.biz/politics/?p=448">Researchers at Sydney IVF said sperm and DNA samples from more than 3,000 men shows DNA fragmentation of sperm increased with age, the Australian Broadcasting Corp. reported Wednesday. The report said there was significant DNA damage to sperm in samples from men over</a> the age of 35. They cannot take fertility absolutely for granted, there is also an impact of male age on fertility, Mark Bowman of Sydney IVF said. Copyright 2008 by United Press International All Rights Reserved.</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/1812460192436866927/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=1812460192436866927' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/1812460192436866927'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/1812460192436866927'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/10/report-said-there-was-significant-dna.html' title='The report said there was significant DNA damage to sperm in samples from men over the age of 35.'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-3931061424491503488</id><published>2008-09-26T20:47:00.000-07:00</published><updated>2008-09-26T20:49:03.262-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="paternally inherited point mutations associated with retinopathies."/><title type='text'>dHPLC and automated DNA sequencing were used to detect the paternally inherited fetal mutation in a maternal plasma sample collected at the 12th week</title><content type='html'>Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.Bustamante-Aragones A, Vallespin E, Rodriguez de Alba M, Trujillo-Tiebas MJ, Gonzalez-Gonzalez C, Diego-Alvarez D, Riveiro-Alvarez R, Lorda-Sanchez I, Ayuso C, Ramos C. Department of Genetics, Fundacion Jimenez Diaz-Capio, CIBERER, Madrid, Spain. abustamante@fjd.es PURPOSE: Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs homologue 1 (CRB1; OMIM 600105) gene explain 10%-24% of cases with LCA depending on the population. The aim of the present work was to study a fetal mutation associated to LCA in maternal plasma by a new methodology in the noninvasive prenatal diagnosis field: the denaturing High Performance Liquid Chromatography (dHPLC). METHODS: This study presents the case of a compound heterozygous fetus for two mutations in CRB1 (1q3.1-q32.2). dHPLC and automated DNA sequencing were used to detect the paternally inherited fetal mutation in a maternal plasma sample collected at the 12th week of gestation. To test the detection limit of dHPLC, we made serial dilutions of paternal DNA in control DNA. RESULTS: We were able to detect the presence of the paternally inherited fetal CRB1 mutation in maternal plasma by dHPLC. Moreover, by comparing chromatograms of serial dilutions to the plasma sample, we could ascertain that the percentage of fetal DNA in maternal plasma was at least 2%. However, the detection of the fetal mutation was not possible by automated DNA sequencing. CONCLUSIONS: dHPLC seems to be sensitive enough to detect small amounts of fetal DNA in maternal plasma samples. It could be a useful tool for the noninvasive prenatal detection of paternally inherited point mutations associated with retinopathies.</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/3931061424491503488/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=3931061424491503488' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/3931061424491503488'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/3931061424491503488'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/09/dhplc-and-automated-dna-sequencing-were.html' title='dHPLC and automated DNA sequencing were used to detect the paternally inherited fetal mutation in a maternal plasma sample collected at the 12th week'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-4695030729514343240</id><published>2008-09-14T07:07:00.000-07:00</published><updated>2008-09-14T07:09:08.712-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="single gene disorder of achondroplasia with paternal aging"/><title type='text'>Achondroplasia a function of paternal ageing</title><content type='html'>1: Am J Med Genet A. 2008 Sep 15;146A(18):2385-9. Links The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT. Houston Health Science Center, The University of Texas, Houston, Texas 77030, USA. kim.waller@uth.tmc.edu There have been no large population-based studies of the prevalence of achondroplasia and thanatophroic dysplasia in the United States. This study compared data from seven population-based birth defects monitoring programs in the United States. We also present data on the association between older paternal age and these birth defects, which has been described in earlier studies. The prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 livebirths (1/27,780-1/16,670 livebirths). The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 livebirths (1/33,330-1/47,620 livebirths). In Texas, fathers that were 25-29, 30-34, 35-39, and > or =40 years of age had significantly increased rates of de novo achondroplasia among their offspring compared with younger fathers. The adjusted prevalence odds ratios were 2.8 (95% CI; 1.2, 6.7), 2.8 (95% CI; 1.0, 7.6), 4.9 (95% CI; 1.7, 14.3), and 5.0 (95% CI; 1.5, 16.1), respectively. Using the same age categories, the crude prevalence odds ratios for de novo cases of thanatophoric dysplasia in Texas were 5.8 (95% CI; 1.7, 9.8), 3.9 (95% CI; 1.1, 6.7), 6.1 (95% CI; 1.6, 10.6), and 10.2 (95% CI; 2.6, 17.8), respectively. These data suggest that thanatophoric dysplasia is one-third to one-half as frequent as achondroplasia. The differences in the prevalence of these conditions across monitoring programs were consistent with random fluctuation. Birth defects monitoring programs may be a good source of ascertainment for population-based studies of achondroplasia and thanatophoric dysplasia, provided that diagnoses are confirmed by review of medical records. Copyright 2008 Wiley-Liss, Inc. PMID: 18698630 [PubMed - indexed for MEDLINE]</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/4695030729514343240/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=4695030729514343240' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/4695030729514343240'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/4695030729514343240'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/09/achondroplasia-function-of-paternal.html' title='Achondroplasia a function of paternal ageing'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-8931192749980776770</id><published>2008-09-10T21:06:00.000-07:00</published><updated>2008-09-10T21:07:32.155-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Change in Single Gene Causes Degenerative Brain Disease in Mice"/><title type='text'>Change in Single Gene Causes Degenerative Brain Disease in Mice</title><content type='html'><a href="http://www.hhmi.org/news/20080910miller.html"> September 10, 2008 Change in Single Gene Causes Degenerative Brain Disease in Mice</a> Mice whose brains receive half the dose of a critical growth-regulating gene exhibit the altered behaviors and nerve cell tangles common in people with Alzheimer's disease or dementia, according to a new report by Howard Hughes Medical Institute (HHMI) scientists. The study, led by HHMI international research scholar Freda Miller, shows that changing just one copy of the p73 gene threw off the balance between cellular life and death in the brain. “The big shock was that half the level of just one gene had such a big impact.” Freda D. Miller “The big shock was that half the level of just one gene had such a big impact,” explains Miller, who is at the Hospital for Sick Children in Toronto. Finding a single protein with such a large impact on anatomy and behavior is an important step toward understanding and treating neurodegenerative diseases. Miller and David Kaplan at the University of Toronto led the research team, which reports their finding in the September 11, 2008, issue of the journal Neuron. As the brain develops, neural cells and connections that are no longer needed are pruned away. A number of different molecules determine when to kill off nerve cells that are damaged or no longer needed. To balance the molecules that bring about cell death, other molecules, like the p73 protein, play an “anti-death role” in the brain, Miller's team reported in a Science paper in 2000. “There are a number of checkpoints to keep cells from writing themselves off,” she says. More recent investigations found that some patients with Alzheimer's disease naturally lack one copy of the p73 gene, and likely have lower p73 protein levels as a result. Those findings did not necessarily mean that lower levels of p73 contribute to Alzheimer's, but they strongly suggested that the protein may protect healthy individuals. Looking for a more definitive answer, Miller's team studied genetically engineered mice that were born with only one copy of the p73 gene. The mice lacking one copy of p73 behaved differently than normal mice, and the differences increased as they grew older. For example, Miller's team found that mice with reduced p73 took longer to find their way out of a water maze than normal mice. They also displayed an unusual behavior clasping their legs together when held up by their tails. “Instead of splaying their legs out, they clasped them into their bodies,” Miller says. “My postdoc came and said, `Freda, these mice are acting very strangely.'” Miller's team then searched for anatomical evidence that the reduction in p73 was affecting the brains of the mice. Using magnetic resonance imaging, the researchers found that the motor cortex and several other regions of the brain had 5-16 percent less volume than the same areas in healthy mice. Later, when they dissected the brains, they found accumulations of Alzheimer's-related tangles inside and outside cells, composed mostly of a nervous system protein called tau that incorrectly attached to phosphate molecules. “Accumulation of the aberrant form of tau and tangles is bad for your brain,” Miller says. It is still unclear how these accumulations harm the brain, but they are common in patients with neurodegenerative diseases. P73 may indirectly regulate the formation of tangles in its role as an anti-death cell monitor. Miller's next step is to see if reductions in p73 have the same impact in humans. The team will look for changes in the number of copies of the p73 sequence in a larger population and see whether a reduced amount of p73 is more common in people with neurodegenerative disorders than in the healthy population, Miller says. “The good news is this isn't a situation where people are completely missing this gene,” Miller says. The people already found to have variations in P73 genes tend to have some p73 production capacity, which might be exploited and improved with drugs. For instance, “we already know that growth factors really increase levels of the normal, pro-life version of p73.” The mixture of molecules required to sustain our nerve cells for a human lifespan is so complicated, that “it's a miracle that as we get older we can think at all,” she jokes. People missing one copy of p73 will not necessarily suffer from degeneration of their brains, Miller says, but, “we think of it as a susceptibility factor for neurodegeneration or injury.”</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/8931192749980776770/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=8931192749980776770' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/8931192749980776770'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/8931192749980776770'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/09/change-in-single-gene-causes.html' title='Change in Single Gene Causes Degenerative Brain Disease in Mice'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-7930184108130040727</id><published>2008-09-09T08:40:00.000-07:00</published><updated>2008-09-09T08:41:25.715-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="familial retinoblastoma"/><title type='text'>What about sporadic retinoblastoma?</title><content type='html'>Familial Retinoblastoma With Unilateral and Unifocal Involvement in 2 Families Shaden Sarafzadeh, MD; Zélia M. Corrêa, MD, PhD; James J. Augsburger, MD Arch Ophthalmol. 2008;126(9):1308-1309. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. Retinoblastoma is a malignant ocular tumor of childhood that occurs in approximately 1 in 18 000 children.1 Approximately 40% of patients with retinoblastoma have inherited a germ-line mutation of the RB1 gene (gene map locus 13q14.1-q14.2) (OMIN+180200), and approximately 85% of them develop bilateral tumors.2 We report on the cases of 2 children from 2 different families; all 4 of these children developed unilateral unifocal retinoblastoma despite no family history of retinoblastoma. Methods This is a retrospective report of 2 families without a history of retinoblastoma in which both children in each family developed unifocal unilateral retinoblastoma. Results Two sets of siblings (n = 4) developed unifocal unilateral retinoblastoma and neither family had a history of retinoblastoma. The first affected sibling in each family was male and received his diagnosis at age 11 months in family 1 and at age 10 . . . [Full Text of this Article] Family 1 Family 2 Comment AUTHOR INFORMATION -------------------------------------------------------------------------------- © 2008 American Medical Association. All Rights Reserved.</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/7930184108130040727/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=7930184108130040727' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/7930184108130040727'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/7930184108130040727'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/09/what-about-sporadic-retinoblastoma.html' title='What about sporadic retinoblastoma?'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-1029590564048224809</id><published>2008-08-30T17:13:00.001-07:00</published><updated>2008-08-30T17:14:52.608-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Genetic Glitches cause non-familial disorders in offspring of older fathers"/><title type='text'>Dad May Be Hazardous to Your Health</title><content type='html'><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjIDt1a47vTbFOToMxaD5g6wP1z3sfI1L9l3bswxQeivjneqzOGFfYr_E1xMVVN25VNRcQT45qlKS8FTuQVtk8C5foNuxZrlmhrk9Qjiu2NQJ-bpFFqhhCJEYFS28yvHSub93qQRuAJ4Ps/s1600-h/sperm+cartoon.jpg"><img style="display:block; margin:0px auto 10px; text-align:center;cursor:pointer; cursor:hand;" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjIDt1a47vTbFOToMxaD5g6wP1z3sfI1L9l3bswxQeivjneqzOGFfYr_E1xMVVN25VNRcQT45qlKS8FTuQVtk8C5foNuxZrlmhrk9Qjiu2NQJ-bpFFqhhCJEYFS28yvHSub93qQRuAJ4Ps/s400/sperm+cartoon.jpg" border="0" alt=""id="BLOGGER_PHOTO_ID_5240468421005935730" /></a> <a href="http://thefiftyfootblogger.blogspot.com/2008/08/caution-dad-may-be-hazardous-to-your.html">The Fifty Foot Blogger: Caution: Dad may be hazardous to your health</a></content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/1029590564048224809/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=1029590564048224809' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/1029590564048224809'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/1029590564048224809'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/08/dad-may-be-hazardous-to-your-health.html' title='Dad May Be Hazardous to Your Health'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><media:thumbnail xmlns:media="http://search.yahoo.com/mrss/" url="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjIDt1a47vTbFOToMxaD5g6wP1z3sfI1L9l3bswxQeivjneqzOGFfYr_E1xMVVN25VNRcQT45qlKS8FTuQVtk8C5foNuxZrlmhrk9Qjiu2NQJ-bpFFqhhCJEYFS28yvHSub93qQRuAJ4Ps/s72-c/sperm+cartoon.jpg" height="72" width="72"/><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-5732083255327246403</id><published>2008-08-14T19:15:00.000-07:00</published><updated>2008-08-14T19:18:07.191-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="paternal age effect and achondroplasia and thanatophoric dysplasia"/><title type='text'>A New Study on Paternal Age and Achondroplasia and Thanatophroic Dysplasia</title><content type='html'><a href="http://www.ncbi.nlm.nih.gov/pubmed/18698630?dopt=AbstractPlus">Am J Med Genet A. 2008 Aug 12. [Epub ahead of print] The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT. Houston Health Science Center, The University of Texas, Houston, Texas.</a> There have been no large population-based studies of the prevalence of achondroplasia and thanatophroic dysplasia in the United States. This study compared data from seven population-based birth defects monitoring programs in the United States. We also present data on the association between older paternal age and these birth defects, which has been described in earlier studies. The prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 livebirths (1/27,780-1/16,670 livebirths). The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 livebirths (1/33,330-1/47,620 livebirths). In Texas, fathers that were 25-29, 30-34, 35-39, and >/=40 years of age had significantly increased rates of de novo achondroplasia among their offspring compared with younger fathers. The adjusted prevalence odds ratios were 2.8 (95% CI; 1.2, 6.7), 2.8 (95% CI; 1.0, 7.6), 4.9 (95% CI; 1.7, 14.3), and 5.0 (95% CI; 1.5, 16.1), respectively. Using the same age categories, the crude prevalence odds ratios for de novo cases of thanatophoric dysplasia in Texas were 5.8 (95% CI; 1.7, 9.8), 3.9 (95% CI; 1.1, 6.7), 6.1 (95% CI; 1.6, 10.6), and 10.2 (95% CI; 2.6, 17.8), respectively. These data suggest that thanatophoric dysplasia is one-third to one-half as frequent as achondroplasia. The differences in the prevalence of these conditions across monitoring programs were consistent with random fluctuation. Birth defects monitoring programs may be a good source of ascertainment for population-based studies of achondroplasia and thanatophoric dysplasia, provided that diagnoses are confirmed by review of medical records. (c) 2008 Wiley-Liss, Inc. PMID: 18698630 [PubMed - as supplied by publisher]</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/5732083255327246403/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=5732083255327246403' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/5732083255327246403'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/5732083255327246403'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/08/new-study-on-paternal-age-and.html' title='A New Study on Paternal Age and Achondroplasia and Thanatophroic Dysplasia'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-2768241813082391299</id><published>2008-08-07T16:32:00.000-07:00</published><updated>2008-08-07T16:35:19.655-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset"/><title type='text'>Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis - Paternally inherited point mutation</title><content type='html'>1: Mol Vis. 2008 Aug 4;14:1388-94. Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.Bustamante-Aragones A, Vallespin E, Rodriguez de Alba M, Trujillo-Tiebas MJ, Gonzalez-Gonzalez C, Diego-Alvarez D, Riveiro-Alvarez R, Lorda-Sanchez I, Ayuso C, Ramos C. Department of Genetics, Fundacion Jimenez Diaz-Capio, CIBERER, Madrid, Spain. abustamante@fjd.es <a href="http://www.ncbi.nlm.nih.gov/pubmed/18682814?dopt=AbstractPlus">PURPOSE: Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs</a> homologue 1 (CRB1; OMIM 600105) gene explain 10%-24% of cases with LCA depending on the population. The aim of the present work was to study a fetal mutation associated to LCA in maternal plasma by a new methodology in the noninvasive prenatal diagnosis field: the denaturing High Performance Liquid Chromatography (dHPLC). METHODS: This study presents the case of a compound heterozygous fetus for two mutations in CRB1 (1q3.1-q32.2). dHPLC and automated DNA sequencing were used to detect the paternally inherited fetal mutation in a maternal plasma sample collected at the 12th week of gestation. To test the detection limit of dHPLC, we made serial dilutions of paternal DNA in control DNA. RESULTS: We were able to detect the presence of the paternally inherited fetal CRB1 mutation in maternal plasma by dHPLC. Moreover, by comparing chromatograms of serial dilutions to the plasma sample, we could ascertain that the percentage of fetal DNA in maternal plasma was at least 2%. However, the detection of the fetal mutation was not possible by automated DNA sequencing. CONCLUSIONS: dHPLC seems to be sensitive enough to detect small amounts of fetal DNA in maternal plasma samples. It could be a useful tool for the noninvasive prenatal detection of paternally inherited point mutations associated with retinopathies.</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/2768241813082391299/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=2768241813082391299' title='1 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/2768241813082391299'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/2768241813082391299'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/08/early-noninvasive-prenatal-detection-of.html' title='Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis - Paternally inherited point mutation'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>1</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-1899750278510717658</id><published>2008-07-29T06:15:00.000-07:00</published><updated>2008-07-29T06:17:33.450-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="Especially for point mutations"/><category scheme="http://www.blogger.com/atom/ns#" term="expanded simple tandem repeats and structural chromosome mutations"/><category scheme="http://www.blogger.com/atom/ns#" term="the contribution of the male germline is dominant."/><title type='text'>Especially for point mutations, expanded simple tandem repeats and structural chromosome mutations, the contribution of the male germline is dominant.</title><content type='html'><a href="javascript:AL_get(this,">Hum Mol Genet.</a> 2008 Jul 1;17(13):1922-37. Epub 2008 Mar 18.<a href="http://www.ncbi.nlm.nih.gov/entrez/utils/fref.fcgi?PrId=3051&amp;itool=AbstractPlus-def&amp;uid=18353795&amp;db=pubmed&amp;url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&amp;pmid=18353795" target="_blank"></a> <a class="dblinks" onmouseout="PopUpMenu2_Hide();" href="javascript:PopUpMenu2_Set(Menu18353795);" target="_self">Links</a> DNA double-strand break repair in parental chromatin of mouse zygotes, the first cell cycle as an origin of de novo mutation. <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Derijck%20A%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Derijck A</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22van%20der%20Heijden%20G%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">van der Heijden G</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Giele%20M%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Giele M</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22Philippens%20M%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">Philippens M</a>, <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&amp;Cmd=Search&amp;Term=%22de%20Boer%20P%22%5BAuthor%5D&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_RVAbstractPlus">de Boer P</a>. Department of Obstetrics and Gynaecology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. In the human, the contribution of the sexes to the genetic load is dissimilar. Especially for point mutations, expanded simple tandem repeats and structural chromosome mutations, the contribution of the male germline is dominant. Far less is known about the male germ cell stage(s) that are most vulnerable to mutation contraction. For the understanding of de novo mutation induction in the germline, mechanistic insight of DNA repair in the zygote is mandatory. At the onset of embryonic development, the parental chromatin sets occupy one pronucleus (PN) each and DNA repair can be regarded as a maternal trait, depending on proteins and mRNAs provided by the oocyte. Repair of DNA double-strand breaks (DSBs) is executed by non-homologous end joining (NHEJ) and homologous recombination (HR). Differentiated somatic cells often resolve DSBs by NHEJ, whereas embryonic stem cells preferably use HR. We show NHEJ and HR to be both functional during the zygotic cell cycle. NHEJ is already active during replacement of sperm protamines by nucleosomes. The kinetics of G1 repair is influenced by DNA-PK(cs) hypomorphic activity. Both HR and NHEJ are operative in S-phase, HR being more active in the male PN. DNA-PK(cs) deficiency upregulates the HR activity. Both after sperm remodeling and at first mitosis, spontaneous levels of gammaH2AX foci (marker for DSBs) are high. All immunoflurescent indices of DNA damage and DNA repair point at greater spontaneous damage and induced repair activity in paternal chromatin in the zygote. PMID: 18353795 [PubMed - indexed for MEDLINE] Related Articles <a class="pl" title="DNA Repair (Amst). 2006 Aug 13; 5(8):959-71. Epub 2006 Jul 11." style="COLOR: #336699" href="http://www.ncbi.nlm.nih.gov/pubmed/16837249?ordinalpos=1&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&amp;linkpos=1&amp;log$=relatedarticles&amp;logdbfrom=pubmed">gammaH2AX signalling during sperm chromatin remodelling in the mouse zygote.</a> [DNA Repair (Amst). 2006] <a class="pl" title="Cytogenet Genome Res. 2004; 104(1-4):14-20. " style="COLOR: #336699" href="http://www.ncbi.nlm.nih.gov/pubmed/15162010?ordinalpos=1&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&amp;linkpos=2&amp;log$=relatedarticles&amp;logdbfrom=pubmed">Mechanisms of DNA double strand break repair and chromosome aberration formation.</a> [Cytogenet Genome Res. 2004] <a class="pl" title="Nucleic Acids Res. 2002 Aug 1; 30(15):3454-63. " style="COLOR: #336699" href="http://www.ncbi.nlm.nih.gov/pubmed/12140331?ordinalpos=1&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&amp;linkpos=3&amp;log$=relatedarticles&amp;logdbfrom=pubmed">An xrcc4 defect or Wortmannin stimulates homologous recombination specifically induced by double-strand breaks in mammalian cells.</a> [Nucleic Acids Res. 2002] <a class="pl" title="Development. 1997 Nov; 124(22):4615-25. " style="COLOR: #336699" href="http://www.ncbi.nlm.nih.gov/pubmed/9409678?ordinalpos=1&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&amp;linkpos=4&amp;log$=relatedarticles&amp;logdbfrom=pubmed">Differential H4 acetylation of paternal and maternal chromatin precedes DNA replication and differential transcriptional activity in pronuclei of 1-cell mouse embryos.</a> [Development. 1997] <a class="pl" title="Mutat Res. 2005 Oct 15; 578(1-2):333-70. Epub 2005 Aug 5." style="COLOR: #336699" href="http://www.ncbi.nlm.nih.gov/pubmed/16084534?ordinalpos=1&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&amp;linkpos=5&amp;log$=relatedarticles&amp;logdbfrom=pubmed">Ionizing radiation and genetic risks XIV. Potential research directions in the post-genome era based on knowledge of repair of radiation-induced DNA double-strand breaks in mammalian somatic cells and the origin of deletions associated with human genomic disorders.</a> [Mutat Res. 2005]</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/1899750278510717658/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=1899750278510717658' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/1899750278510717658'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/1899750278510717658'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/07/especially-for-point-mutations-expanded.html' title='Especially for point mutations, expanded simple tandem repeats and structural chromosome mutations, the contribution of the male germline is dominant.'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-8546109136694877795</id><published>2008-07-15T21:52:00.000-07:00</published><updated>2008-07-15T21:57:10.849-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="male biological clock and single gene disorders"/><title type='text'>A Must see Video</title><content type='html'>Male Biological Clock How Single Gene Disorders that are De Novo/ non-familial/sporadic come into being <script language="javascript" src="http://www.thenewsroom.com/mash/swf/voxant_player.js?a=V2611946&m=550177&w=300&h=325"></script></content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/8546109136694877795/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=8546109136694877795' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/8546109136694877795'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/8546109136694877795'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/07/must-see-video.html' title='A Must see Video'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry><entry><id>tag:blogger.com,1999:blog-6529223881940377750.post-8162600681791525207</id><published>2008-07-07T18:16:00.000-07:00</published><updated>2008-07-07T18:20:42.029-07:00</updated><category scheme="http://www.blogger.com/atom/ns#" term="autisms"/><category scheme="http://www.blogger.com/atom/ns#" term="congenital defects"/><category scheme="http://www.blogger.com/atom/ns#" term="male biological clock and epilepsy"/><category scheme="http://www.blogger.com/atom/ns#" term="schizophrenia"/><title type='text'>Man's Ability to Have Kids is Dependent on His Age Written by Theresa Maher</title><content type='html'>Excellent Article by Theresa Maher! <a href="http://www.newslocale.org/health/hnews/man's_ability_to_have_kids_is_dependent_on_his_age_200807072569.html"> Written by Theresa Maher MONDAY, July 7, (News Locale) - Contrary to popular perception, a man is not able to have kids anytime he wishes. New research out of France indicates male fertility is also dependent on age and men who delay fatherhood may have a tough time conceiving later on</a>. It is believed that unlike women, men have no biological clock and can father children throughout their life. In fact it is not uncommon to see celebrities having babies well after they have crossed their 50s. Now researchers at the Eylau Centre for Assisted Reproduction in Paris have revealed men who delay fatherhood have a less chance of impregnating their partners. The study of more than 20,000 couples who sought fertility help at the center found men over the age of 35 are almost a third less likely to conceive as compared to their younger counterparts. Furthermore men over the age of 40 had poor quality of sperm, which could lead to frequent miscarriages in their partners. In fact the risk of miscarriage if the father was over the age of 40 was 75 percent. Researchers believe the DNA in sperm starts to decay with age and this may be the cause of fertility issues in older men. The details of the study were presented at the European Society of Human Reproduction and Embryology conference. An earlier study by Danish researchers had revealed kids born to older fathers were more likely to die before they entered adulthood when compared to kids born to younger fathers. This incidence was attributed to the declining quality of sperm due to ageing. The scientists found that congenital defects like heart and spine problems were the main cause of death in these children. Additionally the risk of autism, epilepsy or schizophrenia also increased in these kids, which led to accidental deaths as well, the researchers had reported in the European Journal of Epidemiology. Consumers must be aware that the mother's age has always been associated with pregnancy complications. The above study provides evidence that a father's age may also have a say in conception.</content><link rel='replies' type='application/atom+xml' href='http://fathersageandsinglegenedisorders.blogspot.com/feeds/8162600681791525207/comments/default' title='Post Comments'/><link rel='replies' type='text/html' href='http://www.blogger.com/comment.g?blogID=6529223881940377750&postID=8162600681791525207' title='0 Comments'/><link rel='edit' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/8162600681791525207'/><link rel='self' type='application/atom+xml' href='http://www.blogger.com/feeds/6529223881940377750/posts/default/8162600681791525207'/><link rel='alternate' type='text/html' href='http://fathersageandsinglegenedisorders.blogspot.com/2008/07/mans-ability-to-have-kids-is-dependent.html' title='Man's Ability to Have Kids is Dependent on His Age Written by Theresa Maher'/><author><name>concerned heart</name><uri>http://www.blogger.com/profile/14987948292416367555</uri><email>noreply@blogger.com</email><gd:image rel='http://schemas.google.com/g/2005#thumbnail' width='16' height='16' src='https://img1.blogblog.com/img/b16-rounded.gif'/></author><thr:total>0</thr:total></entry></feed>

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