Tay sachs genetic disease

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Tay sachs genetic disease

Tay-Sachs Disease

Tay-Sachs disease is a rare genetic condition. It is caused by the absense of a vital enzyme with the name of Hex-A. Without it, GM2 ganglioside occurs in your cells, especially in the nerve cells in your brain. This process causes repetitive damage to the cells. It occurs in a gene on chromosome 15, and this happens to be the chromosome that codes for the making of Hex-A.

Tay-Sachs symptoms:-Normal until about 6 months; development slows; cannot walk, sit, crawl, roll over, reach out, etc.-Seizures-Bad memory, learning skills, concentration, and decision making-Eventually blind, deaf, paralyzed, unresponsive-Unfortunately around three or four the nervous system is affected so badly that the child most likely passes away.

Tay-Sachs is very rare. There is fewer than 20,000 cases in the U.S. per year. It is the most common in Ashkenazi Jews, but it is also found to be more common in communities such as the French Canadians in Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population in Lousiana.

Types of Tay-Sachs:-Classic infantile: when symptoms appear around 6 months of age. The most common type of Tay-Sachs.-Juvenile: When symptoms appear anywere during childhood, but more likely to appear at around 2-5 years old.-Late-Onset: Occurs in adults; has the same symptoms as the 2 others.

Unfortuately, there is no cure for Tay-Sachs disease. Treatments include gene therapy or enzyme replacement therapy. This cannot cure Tay-Sachs, but can slow it down. We can only hope that future research will help cure this terrible disease.

"Tay-Sachs Disease." Genetics Home Reference. U.S. National Library of Medicine, Oct. 2012. Web. 03 Feb. 2016."Tay-Sachs Disease." Mayo Clinic. The Mayo Clinic, 21 Oct. 2014. Web. 03 Feb. 2016.


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