Genetic Disorder Project Huntington’s Disease

1. Genetic Disorder ProjectHuntington’s Disease Patrick Doyle 2-29-08 Period Eight

2. Huntington’s Disease (HD) is a rare inherited genetic disorder, which causes nerve cells in the brain to waste away. People born with this genetic defect generally don’t show symptoms of the disease until 30 to 45, although about 10 percent of those diagnosed with HD are under the age of twenty. Early in the disease, the two biggest symptoms of it are chorea, or abnormal uncontrollable body movement, and lack of coordination. However, over time Huntington’s Disease takes away the ability to walk, talk or even think. The Gene for Huntington’s Disease is IT15. At the present time there is no cure for Huntington’s Disease. Citations 1, 2, and 3. General Description

3. Symptoms of Huntington’s Disease Early • Chorea (random and uncontrollable movement) • Lack of coordination • Mood swings • Irritability • Trouble remembering things • Bad decision making • Depression Mid • Loss of facial expression • Inability to sit, stand, talk, chew, or swallow easily • Loss of many cognitive abilities, such as abstract thinking Late • Impaired speech • Inability to eat or move without help • Loss of brain function • Citations 3 and 4

4. The Genetics of Huntington’s Disease • Huntington’s Disease is caused by a mutation in the gene IT15 on chromosome 4. This gene regulates and controls the production of the protein huntingtin. This disease causes an increased mortality in neurons in the brain cells, which interferes with their functioning. • This genetic defect is autosomal dominant, so if one parent has the disease, the chance of one of their children getting it are 1 to 2. • Citation 5

5. Diagram of how Huntington’s may be passed on through generations • Citation 6

6. Diagnosis • Huntington’s Disease may be diagnosed with a simple blood test, and is one of the easiest genetic disorders to diagnose. • A negative blood test means that you do not have the disease and cannot pass it on to your children unless your spouse is carrying it. • It is also possible to test an embryo for Huntington’s disease. • Citation 4

7. Treatment/Therapy for Huntington's Disease • While there is no way to completely stop Huntington’s Disease currently, the flow of the disease can be slowed and many symptoms may be stopped through treatments. • Several treatments being researched currently include Gene Silencing and Stem Cells. • Another important part of treatment for HD is nutrition, since someone with HD normally needs 2 to 3 times the normal amount of calories, to maintain their body weight. • It is also very important for someone with Huntington’s Disease to get lots of exercise after symptoms start to occur. • Citations 1 and 4

8. Huntington’s Disease in history and in our culture • History • 300 A.D.- Huntington’s Disease may have been referred to as St. Vitus’s Dance, due to the chorea that comes with HD. (St. Vitus was the patron saint of epileptics). • The Middle Ages- People with Huntington’s Disease were thought to be witches or possessed by spirits. They were exiled or in some cases killed. Some people speculate that the Salem Witches on trial in 1692 had HD. • 1860- One of the earliest medical descriptions of HD was made by the Norwegian physician Johan Christian Lund. He linked the chorea in HD with dementia. • 1872- George Huntington also realized that the conditions were linked and in 1872 presented an accurate description of the disease to a medical society in Middleport, Ohio. • 1993- The Huntington Disease Collaborative Research Group isolates the gene that causes HD, 4p16.3 • Cultural References • In the television show House, the character Thirteen’s mother died of Huntington’s disease. • A 9th season episode in the television show ER features a character with Huntington’s disease. • Woody Guthrie, who wrote “This Land is Your Land,” died in 1967 from Huntington’s disease. • Citation 4 Picture to the Right- George Huntington

9. Conclusion • In conclusion, the genetic disorder Huntington’s Disease is one of the worst genetic disorders that you can have. It has a wide array of negative effects, is currently incurable, and inevitably results in death. However, there is hope for the future, as many scientists are working on ways to combat this disorder.

10. 1. "NINDS Huntington's Disease Information Page." National Institute of Neurological Disorders and Stroke. 9 May 2007. National Institute of Neurological Disorders and Stroke. <http://www.ninds.nih.gov/disorders/huntington/huntington.htm>. • 2. "Huntington's Disease." MedlinePlus. National Institute of Neurological Disorders and Stroke. <http://www.nlm.nih.gov/medlineplus/huntingtonsdisease.html>. • 3. "Frequently Asked Questions About HDSA and HD." Huntington's Disease Society of America. 9 May 2007. <http://www.hdsa.org/site/PageServer?pagename=help_info_ed_faq>. • 4. "Huntington's Disease." Wikipedia. <http://en.wikipedia.org/wiki/Huntington's_disease>. • 5. Leffler, Joy B. "Huntington's Disease." We Move. <http://www.wemove.org/hd/>. • 6. "Causes of Huntington's Disease." About Dementia. <http://www.about-dementia.com/articles/about-huntingtons/huntingtons-causes.php>.