Tay-Sachs Disease

By: Regan Wilson

Other Names for Tay-Sachs

It can be abbreviated to TSD, and is also known as GM2 gangliosidosis.

Cause of Tay-Sachs

Tay-Sachs is an inherited disease. It is caused by a defect of the HEXA gene. This gene produces an enzyme that helps break down a fatty substance in nerve cells. Mutations in the HEXA gene disrupt activity of the enzyme, resulting in a toxic accumulation of lipids in the brain and spinal cord. The disease is inherited; it can't be transmitted in any other way.

Pictures of Tay-Sachs

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Why People Screen for Tay-Sachs

A major reason why couples screen for Tay Sachs, and for other genetic disorders, is because they want the option to terminate an affected pregnancy. An indeed, with the advent of prenatal diagnosis, the incidence of Tay Sachs among children born in the Ashkenazi Jewish population has plummeted.

Population Affected

In Jews 1 in 27 people are carriers. In the general population, 1 in 250 people are