Which ganglioside accumulates in Tay-Sachs Disease?

Tay-Sachs Disease is a genetic disorder caused by a deficiency of an enzyme called hexosaminidase A. This enzyme is responsible for breaking down GM2 gangliosides, which are a type of fatty substance found in nerve cells. When hexosaminidase A is deficient, GM2 gangliosides accumulate in the brain and other tissues, leading to the neurological symptoms characteristic of the disease.

The accumulation of GM2 gangliosides results in progressive damage to the nerve cells, causing motor and cognitive decline, which is noted in affected individuals. The specific nature of this accumulation is what distinguishes Tay-Sachs from other similar lysosomal storage diseases that involve different types of gangliosides or substrates.

In Tay-Sachs, the presence of GM2 gangliosides in elevated levels is a fundamental aspect of the disease pathology, and testing for these gangliosides can be used to confirm the diagnosis. The other types of gangliosides listed are involved in different metabolic processes and their accumulation is associated with other conditions, but they do not play a role in Tay-Sachs Disease.