Huntingtons Disease Essay -- essays research papers

Huntingtons DiseaseHuntingtons disease, also known as Huntingtons chorea is a genetic disorderthat usually shows up in someone in their thirties and forties, destroys themind and body and leads to insanity and death within ten to twenty years. Thedisease works by degenerating the ganglia (a yoke of nerve clusters deep in the humor that ensures movement, thought, perception, and memory) and cortex byusing energy incorrectly. The brain will starve the neurons (brain cells), andsometimes make them work harder than usual, causing extreme mental stress. Theresult is jerky, random, uncontrollable, rapid movement such as grimacing of theface, flailing of arms and legs, and other such movement. This is known aschorea.Huntingtons chorea is hereditary and is caused by a recently discoveredab general gene, IT15. IT stands for "interesting transcript" because of the factthat researchers have no idea what the gene does in the body. Huntingtonsdisease is an inherited change that produc es extra copies of a gene sequence(IT15) on the short arm of chromosome 4. A genetic base that exists intriplicate, CAG for short, is effected by Huntingtons disease. In normal people,the gene has eleven to thirty-four of these, but, in a victim of Huntingtonsdisease the gene exists from anywhere between thirty-five to one-hundred or more.The gene for the disease is dominant, bountiful children of victims of Huntingtonsdisease a 50% chance of obtaining the disease.Several other symptoms of the disease exist other than chorea. High levels oflactic acid have been detected in patients of Huntingtons disease as a bi-product of the brain cells working too hard. Also, up to six times above thenormal level of an important brain brain protein, bFGF (or basic fibroblastgrowth factor) in areas of the brain effected by the chorea. This occurs fromthe problems on chromosome 4, where the gene for control of bFGF is also located.As of yet, there is no treatment for Huntingtons disease. But with thediscovery of the mutated genes that cause it, there is now a way of diagnosingif you will get it. This technique was discovered only recently and report inthe Journal of American Medical Association in April, 1993. Something that manypeople do not want to know. Because it can go two ways. either you are extremelyrelieved because the test shows up negative,... ...d to get her Ph.D. In 1976 she moved toWashington to become executive director of the Congressional Commission for thecontrol of Huntingtons disease and its Consequences. Once there, theydiscovered that Huntingtons disease works by distroying the Ganglia. Then they opinionated that the best way to research Huntingtons disease was at the level ofthe 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 75years to find. But, on a freak chance, they effectuate it. it was the 12th markerthat they tested. The discovery o f the marker led to the discovery of the genewhich won Wexler the Albert Lasker Public Service Award. The highest honor inAmerican medicine. She also develop a test to accurately determine whether ornot someone will get Huntingtons disease.Wexler will not reveal if she, herself has taken the test because she does amultitude of genetic counciling, and does not want to sway her patientsdecisions on whether or not to take the test. But, whether she tests positive ornegative, Huntingtons disease will live on. Unless scientists standardized Wexler canfind a cure.