Tay-Sachs Disease - Research Article from Macmillan Science Library: Genetics

This encyclopedia article consists of approximately 7 pages of information about Tay-Sachs Disease.
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Tay-Sachs Disease

Tay-Sachs disease is a severe genetic disease of the nervous system that is nearly always fatal, usually by three to four years of age. It is caused by mutations in the HEXA gene, which codes for a component of the enzyme β-hexosaminidase A or "Hex A." The resulting accumulation of a brain lipid called GM2 ganglioside produces brain and spinal cord degeneration. It is a rare disease that is found in all populations, but it is particularly prevalent in Ashkenazi Jews of Eastern European origin. There is no treatment, but research aimed at treating the disease by blocking synthesis of the affected molecules has been ongoing since the late 1990s. Carriers can be identified by DNA or enzyme tests and prenatal diagnosis is available to at-risk families.

History and Disease Description

In 1881 Warren Tay, a British ophthalmologist, observed a "cherry red spot" in...

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This section contains 1,921 words
(approx. 7 pages at 300 words per page)
Buy the Tay-Sachs Disease Encyclopedia Article
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Macmillan Science Library: Genetics
Tay-Sachs Disease from Macmillan Science Library: Genetics. Copyright © 2001-2006 by Macmillan Reference USA, an imprint of the Gale Group. All rights reserved.
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