Tay-Sachs disease (abbreviated TSD, also known as "GM2 gangliosidosis") is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. TSD is inherited in an autosomal recessive pattern. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells in the brain. Gangliosides are present in lipids, which are components of cellular membranes, and the ganglioside GM2, implicated in Tay-Sachs disease, is especially common in the nervous tissue of the brain.

The disease is named after the British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population in 1887. It has been suggested that carriers of Tay-Sachs (those with one defective version of HEXA and one normal gene) may have a selective advantage, but this has never been proven.

Research in the late 20th century demonstrated that Tay-Sachs disease is caused by mutations on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several populations. French Canadians of southeastern Quebec and Cajuns of southern Louisiana have a carrier frequency similar to Ashkenazi Jews, but they carry a different mutation. Most HEXA mutations are rare, and do not occur in genetically isolated populations. The disease can potentially occur from the inheritance of two unrelated mutations in the HEXA gene, one from each parent.

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Tay-Sachs disease and Duchenne's muscular dystrophy are good examples of frame shift mutation.
Tanataca (Takahiro Tanaka) Wed, 23 Dec 2009 05:08:32 -0000
Tay-Sachs disease and Duchenne's muscular dystrophy are good examples of frame shift mutation.
#Ebookscience Tay-Sachs Disease (2009) http://bit.ly/7XmqlL
agungabb (agungabb) Tue, 22 Dec 2009 12:01:50 -0000
#Ebookscience Tay-Sachs Disease (2009) http://bit.ly/7XmqlL
I'm really scared I'll have a baby with Tay-Sachs disease. Better not marry another eastern-european Jew.
nataliefisher (Natalie Fisher) Mon, 21 Dec 2009 12:32:14 -0000
I'm really scared I'll have a baby with Tay-Sachs disease. Better not m Subscribe to Tay-Sachs RSS feed