DNA to Disease Huntington's disease. By Justin Altmeyer

Huntington's disease is an inherited condition in which nerve cells in the brain break down over time. This disease destroys cells in the basal ganglia. This is the part of the brain that controls movement, emotion, and cognitive ability. It is a progressive brain disorder.

This represents the location where this disease is generated from.
The defective gene in this mutation is IT-15 on chromosome 4. The mutation causes an alteration in the huntingtin protein that works to maintain the putamen and caudate nucleus, two structures within the basal ganglia.
Huntingtin protein is produced from the HD gene. It’s job is to direct the delivery of small packages, usually containing certain vesicles with important muscles, to the outside of the cell.
George Huntington

Huntington’s disease was first described to people by George Huntington in 1872 to some residents of Long Island. In 1993, a group of investigators discovered the gene that causes the disease. Due to their discovery, it is now possible to diagnose HD with blood or tissue samples.

A child has a 50/50 chance of inheriting this gene mutation.

Huntington’s disease affects 3 to 7 people per 100,000 people of European ancestry. These numbers would be even less common in other populations including Japanese, Chinese, and African descent. Approximately 30,000 Americans have HD.

People in America and anyone of European descent seem to be more prone to being affected by this disease.

Symptoms become noticeable around ages 30 to 50. Symptoms: poor memory, depression, mood swings, lack of coordination, twitching/uncontrolled movement, and difficulty walking, speaking, or swallowing.

This disease can be determined by a series of neurological and physiological tests. After this a genetic test could then confirm the diagnoses by determining if this patient has inherited the HD gene mutation.

Treatments cannot slow the down the progression of the disease, but they can provide the patient with some more comfort. A medication has the ability to ease feelings of depression and anxiety. Also, physical or speech therapy helps HD patients live a normal life.

Prognosis: This is a progressive and fatal disease that usually causes death 15 to 30 years after the first symptoms. Most people who develop Huntington's disease can remain active and independent for 10 years or so after the onset of symptoms.

The genetic pattern of inheritance is autosomal dominant
Today pre-genetic diagnostic testing with with In Vitro Fertilization are performed in order to make sure that any fertilized egg implanted does not have the abnormal gene. If a woman is already pregnant, she can receive testing for the fetus with a chorionic villus biopsy at 10-11 weeks or via amniocentesis at 14-18 weeks.


Works Cited

"Huntington Disease." Genetics Home Reference, U.S. Department of Health and Human Services, 31 Jan. 2017, ghr.nlm.nih.gov/condition/huntington-disease#diagnosis. Accessed 3 Feb. 2017.

"Huntington's Disease." Health Reference Center, Infobase Learning, 2017, online.infobase.com/HRC/Search/Details/388636?q=huntington%27s%20disease.

"Huntington's Disease." Learn. Genetics, Genetic Science Learning Center, 14 Feb. 2014, learn.genetics.utah.edu/content/disorders/singlegene/. Accessed 4 Feb. 2017.

"What is Huntington's Disease?" Huntington's Disease Society of America, 2017, hdsa.org/what-is-hd/?gclid=CJLLiYKK-tECFUeHswodxfQGZQ. Accessed 5 Feb. 2017.


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