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

This encyclopedia article consists of approximately 7 pages of information about Tay-Sachs Disease.
This section contains 1,921 words
(approx. 7 pages at 300 words per page)
Buy the Tay-Sachs Disease Encyclopedia Article

History and Disease Description

In 1881 Warren Tay, a British ophthalmologist, observed a "cherry red spot" in the retina of a one-year-old child with mental and physical retardation. Later, in 1896 Bernard Sachs, an American neurologist, observed extreme swelling of neurons in autopsy tissue from affected children. He also noted that the disease seemed to run in families of Jewish origin. Both physicians were describing the same disease, but it was not until the 1930s that the material causing the cherry-red spot and neuronal swelling was identified as a ganglioside lipid and the disease could be recognized as an "inborn error of metabolism." The term "ganglioside" was coined because of the high abundance of the brain lipid in normal ganglion cells (a type of brain cell). In the 1960s, the structure of the Tay-Sachs ganglioside was identified and given the name "GM2 ganglioside" (Figure 1).

Gangliosides are glycolipids. The lipid component...

(read more)

This section contains 1,921 words
(approx. 7 pages at 300 words per page)
Buy the Tay-Sachs Disease Encyclopedia Article
Copyrights
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.
Follow Us on Facebook