Victim Of Huntington's Disease The Gene example essay topic

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, IT 15.

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 (IT 15) 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, and a great bur don is lifted off of your mind, or you show up positive, and know how and a little bit about when you will die, increasing the burden very greatly. And living the rest of your life in depression. Some 30,000 Americans are currently suffering for this genetic disorder. Named in 1872 for George Huntington the New York Doctor who first wrote down it's symptoms, Huntington disease up to now was a silent time bomb. 13,000 people, the largest known concentration of sufferers from Huntington " disease, live in the Lake Maracaibo region of Venezuela. The origins of this gene pool has been traced back to the 1800's to a woman named Maria Concepcion.

It was from blood samples of these people that scientists became extraordinarily lucky and isolated the genetic marker that shows the presence of this disorder. Today, it is believed that Maria obtained the disease when she was birthed by a european sailor. Since it was first recorded by George Huntington, a Long Island doctor, Huntington's disease had remained fairly low key. No one heard about it until it infected Woodie Guthrie, A famous folk singer from the 1920's who showed symptoms of the disease. In 1967, he died. This put Huntington's Disease on the map, but it still was not well known.

But, before Woodie guthrie died, he had a son, Arlo Guthrie. He, too became a famous folk singer, this time from the Seventies. He became extremely famous, but had to live with the fact that he hasa 50% chance of having the disorder. That aroused huge public interest and made the disease well-known. Now that you know about Huntington's disease, you can imagine how it works, and the probability of getting it. But, can you imagine how it feels to have the disorder?

What would it be like to know that you have a 50% chance of not reaching your sixtieth birthday? Now, enter the life of Nancy Wexler, a woman who knows how it feels for both of these. She watched as her mother died from the disease, and has to live with the fact that she may be next. When Wexler was young, three of her uncles died of the killer disease.

'Men only got Huntington's disease' went the myth. Then it happened; her sister was told by her doctor that her unusual walk was an early symptom. She too had the disease. Since then, she and her sister Alice, swore never to have children.

Years later, Wexler joined up with her husband Milton Wexler, and Marjorie Guthrie, wife of Woodie Guthrie, and formed the Los Angeles chapter of the Commitee to combat Huntington's Disease. Guthrie wanted to focus the organization on patient care, but Wexler was intent on finding a cure. So, she began to invite biologists to help study the disease while she worked 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 destroying the Ganglia. Then they decided that the best way to research Huntington's disease was at the level of the gene. They decided to look for a 'marker' (small identifiable piece of DNA) of where the faulty gene is located.

This normally would ya ve 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 council ing, 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.