Huntington disease The HD gene, whose mutation results in Huntington disease, was mapped to chromosome 4 in 1983 and cloned in 1993. As the number of repeated triplets - CAG (cytosine, adenine, guanine) - increases, the age of onset in the patient decreases. Since people who have those repeats always suffer from Huntington disease, it suggests that the mutation causes a gain-of-function, in which the mRNA or protein takes on a new property or is expressed inappropriately.
"Huntington Disease - Genes and Disease - NCBI Bookshelf." BookShelf.com. U.S. National Library of Medicine. Web. 13 Apr. 2011.
Symptoms: Early signs of Huntington's disease vary from person to person, but initial symptoms of HD also often include uncharacteristic mood swings, irritability, apathy (lack of interest or emotion), passivity (lacking will), depression, or anger—any of which can increase or decrease as the disease progresses HD is the most common genetic cause of abnormal involuntary writhing movements called chorea.
Impact of Huntington's disease on quality of life. HD has a great impact on patients' physical and psychosocial well-being, the latter being more severely affected.
Huntington’s disease causes mood swings, irritability, apathy, passivity. It can also bring depression and anger. "Impact of Huntington's Disease on Quality of Life." PubMed.com. U.S. National Library of Medicine. Web. 13 Apr. 2011.
Inheritance: The gene that produces HD lies on chromosome 4, one of the 22 non-sex-linked, or "autosomal," pairs of chromosomes, placing men and women at equal risk of being affected by the disease, meaning that HD is sex-independent. HD is called an autosomal dominant disorder because only one copy of the defective gene, inherited from one parent, is necessary to produce the disease. If a child does not inherit the HD gene, he or she will not develop the disease and cannot pass it to subsequent generations
Interesting facts about Huntington's Disease The disease was named for Dr. George Huntington, who first described it in 1872. In the United States, about 1 in every 30,000 people has Huntington's disease. "Huntington's Disease." Learn.Genetics™. The University of Utah. Web. 13 Apr. 2011.
Research outlook (treatment in the future) In related research, fetal tissue transplants have been shown to improve symptoms of Parkinson's disease. However, this approach may be more challenging in Huntington's patients because the disease affects more of the brain. Furthermore, drug therapies may be cheaper and easier to administer to many people. Additional studies are needed to assess how feasible fetal cell transplantation will be as a treatment for HD. Anyhow, this research is one step closer toward finding a cure for Huntington's disease.
Works Cited "Huntington's Disease Information Page." National Institute of Neurological Disorders and Stroke (NINDS). Web. 18 Apr. 2011. "Huntingtonâs Disease Symptoms & Signs | XENAZINEÂ® (tetrabenazine) Tablets."XENAZINEÂ® (tetrabenazine) Tablets | Treatment for Chorea Associated with Huntingtonâs Disease. Web. 18 Apr. 2011. "Huntington's Disease Symptoms, Causes, and Treatment on MedicineNet.com." MedicineNet - Health and Medical Information Produced by Doctors. Web. 18 Apr. 2011. "Huntington's Disease." Wikipedia, the Free Encyclopedia. Web. 18 Apr. 2011. Kuwana, Ellen. "Neuroscience for Kids - In the News - Huntington's Disease." UW Faculty Web Server. Web. 18 Apr. 2011.