Huntingtons Disease Essay -- essays research papers

Huntington's Disease Huntington's disease, also known as Huntington's chorea is a genetic disorder that usually shows up in someone in their thirties and forties, destroys the mind and body and leads to insanity and death within ten to twenty years. The disease works by degenerating the ganglia (a pair of nerve clusters deep in the brain that controls movement, thought, perception, and memory) and cortex by using energy incorrectly. The brain will starve the neurons (brain cells), and sometimes make them work harder than usual, causing extreme mental stress. The result is jerky, random, uncontrollable, rapid movement such as grimacing of the face, flailing of arms and legs, and other such movement. This is known as chorea. Huntington's chorea is hereditary and is caused by a recently discovered abnormal gene, IT15. IT stands for "interesting transcript" because of the fact that researchers have no idea what the gene does in the body. Huntington's disease is an inherited mutation that produces extra copies of a gene sequence (IT15) on the short arm of chromosome 4. A genetic base that exists in triplicate, CAG for short, is effected by Huntington's disease. In normal people, the gene has eleven to thirty-four of these, but, in a victim of Huntington's disease the gene exists from anywhere between thirty-five to one-hundred or more. The gene for the disease is dominant, giving children of victims of Huntington's disease a 50% chance of obtaining the disease. Several other symptoms of the disease exist other than chorea. High levels of lactic acid have been detected in patients of Huntington's disease as a bi- product of the brain cells working too hard. Also, up to six times above the normal level of an important brain brain protein, bFGF (or basic fibroblast growth factor) in areas of the brain effected by the chorea. This occurs from the problems on chromosome 4, where the gene for control of bFGF is also located. As of yet, there is no treatment for Huntington's disease. But with the discovery of the mutated genes that cause it, there is now a way of diagnosing if you will get it. This technique was discovered only recently and reported in the Journal of American Medical Association in April, 1993. Something that many people do not want to know. Because it can go two ways. Either you are extremely relieved because the test shows up negative,... ...d to get her Ph.D. In 1976 she moved to Washington to become executive director of the Congressional Commission for the control of Huntington's disease and it's Consequences. Once there, they discovered that Huntington's disease works by distroying the Ganglia. Then they decided that the best way to research Huntington's disease was at the level of the gene. They decided to loook for a "marker" (small identifiable piece of DNA) of where the faulty gene is located. This normally would yave taken 50 to 75 years to find. But, on a freak chance, they found it. it was the 12th marker that they tested. The discovery of the marker led to the discovery of the gene which won Wexler the Albert Lasker Public Service Award. The highest honor in American medicine. She also developed a test to accurately determine whether or not someone will get Huntington's disease. Wexler will not reveal if she, herself has taken the test because she does a multitude of genetic counciling, and does not want to sway her patients' decisions on whether or not to take the test. But, whether she tests positive or negative, Huntington's disease will live on. Unless scientists like Wexler can find a cure.