Tay-Sachs Disease is an autosomal recessive disease caused by malfunctions in cellular lysosomes. It is usually first diagnosed in infancy and is almost always fatal.
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Tay-Sachs is caused by a buildup of GM2 gangliosides. The disease occurs when enzymes in cellular lysosomes are unable to properly breakdown GM2 gangliosides.
A deficiency or malfunction of the hexaminidase A enzyme (which is responsible for breaking down GM2 gangliosides) causes Tay-Sachs disease. Hexaminidase A issues can usually be traced to a mutation on chromosome 15 (also known as the HEXA gene). Much of what is known about the cellular causes of Tay-Sachs comes from studying the disease in Jacob Sheep.
“CHERRY RED” SPOT
Tay-Sachs is most easily diagnosed by the presence of a “cherry red” spot that appears on the retina of patients.
Tay-Sachs disease is especially common among Ashkenazi Jews. This is thought to be the result of the bottleneck effect dating to the European Middle Ages. To a lesser degree, the disease is prevalent among French Canadians and Cajuns for similar reasons.
Tay-Sachs is closely related to Sandhoff Disease or AB Variant Disease. The key difference in the diseases is which form of hexaminidase is involved.
Quizbowl is about learning, not rote memorization, so we encourage you to use this as a springboard for further reading rather than as an endpoint. Here are a few things to check out:
* Read about Tay-Sachs from the National Human Genome Research Institute.
* Here's an interesting article about the bottleneck effect and its role in bringing about a high occurrence of Tay-Sachs in Ashkenazi Jewish populations.
* Tay-Sachs is prevalent in Jacob Sheep. Read about it here.
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