 |
|
Researchers estimate risk of transmission of Huntington's disease to offspring among male carriers
June 10, 2009(Boston) - Researchers from Boston University School of Medicine (BUSM) have quantified the probability of a male who carries a "high normal" variant of the Huntington's Disease (HD) gene having a child who develops the disease. Although thought to be a very rare event, the probability has never been estimated using current information and disease guidelines. The findings, appear on-line in the American Journal of Medical Genetics, may be useful during prenatal genetic counseling.
Huntington disease (HD) is a hereditary neurodegenerative disorder that arises from expansion of a CAG trinucleotide repeat on chromosome 4. Individuals with a variant of at least 36 CAG repeats will likely develop HD in their lifetime. Most individuals have a variant below 27 CAG repeats and are not at risk for the disease nor are they at risk of passing on the disease to their children. However, although individuals with a variant between 27 and 35 CAG repeats (called high normal) are not at risk of developing HD, males may pass an expanded CAG repeat onto their children making the child at risk of developing HD.
While several studies suggest that male carriers of high normal alleles have a low probability of transmitting an expanded HD allele in the penetrant range, few studies have attempted to estimate this probability.
The researchers estimated the conditional probability of an offspring inheriting an expanded allele from a father with a high normal allele by applying probability definitions and rules to estimates of HD incidence, paternal birth rate, frequency of no family history of HD, and frequency of high normal alleles in the general population. "The estimated probability that a male high normal allele carrier will have an offspring who develops HD ranges from 1/6,241 to 1/951," said lead author Audrey Hendricks, a research assistant and biostatistics doctoral student at BUSM and Boston University School of Public Health.
According to the researchers, the proportion of males who have a high normal allele is less than three percent. "Using our maximum probability estimate of 1/951, we see that over 30,000 men would need to be gathered to find one man with a high normal allele who has a child who develops HD," explained Hendricks.
"Even with our effort to provide a conservative estimate, our estimate for the maximum probability suggests that expansion rates are rare. However, it provides a baseline to assist genetic counselors and high normal allele carriers with family planning," she added.
Boston University Medical Center
The researchers estimated the conditional probability of an offspring inheriting an expanded allele from a father with a high normal allele by applying probability definitions and rules to estimates of HD incidence, paternal birth rate, frequency of no family history of HD, and frequency of high normal alleles in the general population. "The estimated probability that a male high normal allele carrier will have an offspring who develops HD ranges from 1/6,241 to 1/951," said lead author Audrey Hendricks, a research assistant and biostatistics doctoral student at BUSM and Boston University School of Public Health.
According to the researchers, the proportion of males who have a high normal allele is less than three percent. "Using our maximum probability estimate of 1/951, we see that over 30,000 men would need to be gathered to find one man with a high normal allele who has a child who develops HD," explained Hendricks.
"Even with our effort to provide a conservative estimate, our estimate for the maximum probability suggests that expansion rates are rare. However, it provides a baseline to assist genetic counselors and high normal allele carriers with family planning," she added.
Boston University Medical Center
Huntington Disease Current Events and Huntington Disease News RSSNew hope for treatment of neurodegenerative disorder
Researchers from the University of Southern California have taken an important first step toward protecting against Huntington disease using gene therapy.
Huntington disease begins to take hold early on
A global analysis of brain proteins over a 10-week period in a mouse model of Huntington Disease has revealed some new insights into this complex neurodegenerative disorder.
Stowers Institute's Workman Lab discovers novel histone demethylase protein complex
The Stowers Institute's Workman Lab has discovered a novel histone demethylase protein complex characterized in work published today in Molecular Cell.
Abnormal glutamine repeats interfere with key transcription factor, leading to neurodegeneration
Although repeating sequences of three nucleotides encoding some of the bodies' 20 amino acids are a normal part of protein composition, abnormal expansion of trinucleotide repeats is the known cause of multiple inherited neurodegenerative disorders, including Huntington disease.
Tufts University biologists link Huntington's disease to health benefits in young
For years researchers in neurology have believed that people with Huntington's disease have more children than the general population because of behavioral changes associated with the disease that lead to sexual promiscuity.
A new molecular zip code, and a new drug target for Huntington's disease
McMaster University researchers have first insight into how Huntington's disease (HD) is triggered. The research will be published online in the British Journal, Human Molecular Genetics, on Monday, August 20.
Elevated testosterone kills nerve cells
A Yale School of Medicine study shows for the first time that a high level of testosterone, such as that caused by the use of steroids to increase muscle mass or for replacement therapy, can lead to a catastrophic loss of brain cells.
Cure found for Huntington disease in mice offers hope for treatment in humans
Researchers at the University of British Columbia's Centre for Molecular Medicine and Therapeutics (CMMT) have provided ground-breaking evidence for a cure for Huntington disease in a mouse offering hope that this disease can be relieved in humans.
More Huntington Disease Current Events and Huntington Disease News Articles
 |
Huntington's Disease (The Facts) by Oliver W J Quarrell (Author) Huntington's disease is a genetically inherited condition which results in severe nerve-cell damage in the brain. The hereditary and debilitative nature of the disease means that many people are involved either directly or indirectly by this condition. The recent identification of the faulty gene involved has made the diagnosis of this condition simpler. The majority of people develop the disease between the ages of 35 and 55 years, so for those aware of their genetic risk there are dilemmas to consider - should you have a test to see if you have the gene? Should you start a family? The new edition of this successful book specifically designed for families of patients with Huntington's disease has been expanded to include a number of important new developments in research and... |
 |
A New Promise by Julie Eller (Author) |
 |
Blue Institution by Ernie Kish (Author) Scott Porter, institutionalized at the age of twenty in a state institution for the developmentally delayed. Ironically, Scott is not developmentally delayed. He suffers from a hereditary neurological disease, Huntington's chorea, which Scott admits is "one of Mother Nature's cruelest jokes."Huntington's has rendered Scott virtually unable to do anything for himself, including communicating verbally. The only communication he has is the subtle vibrations in a person's being, that only a handful of the more sensitive care-givers, where he now lives, understand. Scott's brilliant mind is still intact, it's his body that doesn't want to function any-longer.So with all the problems that Scott has, how does he tell his story? "It's a miracle." Scott tells his story through his mind-his... |
 |
Learning to Live With Huntington's Disease: One Family's Story by Sandy Sulaiman (Author) Huntington's Disease (HD) is a hereditary illness passed on via a defective gene. There is a fifty per cent chance of inheriting it from a parent and there is yet no cure. "Learning to Live with Huntington's Disease" is one family's poignant story of coping with the symptoms, the diagnosis and the effects of HD. This book presents the struggles and strengths of the whole family when one member loses their future to a terminal illness. Told by the sufferer and other significant family members, the individuals describe the burden of watching yourself and others for symptoms of HD, including involuntary movements, depression, clumsiness, weight loss, slurred speech and sometimes violent tendencies. The family recounts the challenge to remain united and describes how they approached issues... |
 |
Huntington's Disease Awareness Ribbon Mouse Pad by MyHeritageWear.com The Huntington's Disease Ribbon proudly displayed on a mouse pad. There is no better way to achieve awareness for the meaning of the Huntington's Disease Ribbon than to display it on your mouse pad for everyone to see. The mouse pad measures at 9.25 x 7.75, it is machine washable, and the colors will not fade or run. Start gaining awareness today by presenting your Huntington's Disease Ribbon mouse pad at work or at home. It is certain to keep your mouse rolling in style all while gaining support and awareness! |
 |
Insurrection Also With: WB (Producer) |
 |
Huntington's Disease (Genes and Disease) by David M. Lawrence (Author) Huntington's disease, or Huntington's chorea, is a progressive genetic disease marked by death of brain cells coupled with loss of muscular control and coordination, declining mental abilities, and erratic behavior. Currently, this form of dementia has no cure. "Huntington's Disease" introduces this disease, detailing its history and progression, and discusses the search for the gene that causes it and the development of genetic tests for the gene. This title also addresses the ethical questions of testing people for a disease whose symptoms typically develop later in life. |
|
Huntington's Disease [VHS] Directed By: Tina Campbell | |
 |
Faces of Huntington's by Carmen Leal-Pock (Author) Faces of Huntington's is an incredible collection of stories, essays, poems, and quotes of those who are in some way connected to Huntington's Disease. The book focuses on over sixty people who have HD, are at risk, caregivers, other family members, adn friends. It is a beacon of light in what is often a dark world. 30,000 Americans have this terminal neurological disorder. An additional 150,000 are at-risk. Somehow, despite the horror of Huntington's Disease, there is loving support, a positive attitude, and unending hope. There are stories that make you rejoice at the unswerving faith and those that make you cry at the senseless loss. Faces of Huntington's gives readers a glance at the faces of heroes. It is guaranteed to bring tears of joy, hope, love and ... |
 |
The Official Patient's Sourcebook on Huntington's Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications (Author) This book has been created for patients who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells patients where and how to look for information covering virtually all topics related to huntington's disease (also Artificial insemination; Chronic Progressive Chorea; Chronic progressive hereditary chorea; Degenerative Chorea; Hereditary Chorea; Hereditary Chronic Progressive Chorea), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are... |
| © 2009 BrightSurf.com |