Genetic Test
GM2A (GM2 Ganglioside Activator) encodes the GM2 activator protein, which enhances the activity of beta-hexosaminidase in breaking down sugars. This test targets a single gene variant associated with the AB variant form of GM2 gangliosidosis.
Disease Description
Gangliosidosis is a genetic disorder caused by the accumulation of gangliosides—a type of molecule composed of sugar and lipid—as well as certain polysaccharides and glycolipids within cells. Gangliosidosis is classified as either GM1 or GM2. GM2 gangliosidosis is caused by reduced activity of the enzyme beta-hexosaminidase. Hexosaminidase promotes the degradation of gangliosides, and if the enzyme does not function properly, these substances accumulate in the nervous system and cause various problems. Among the types of GM2 gangliosidosis, the AB variant form is caused by mutations in the GM2A gene, which impairs the normal activity of hexosaminidase, ultimately leading to the destruction of nerve cells in the brain and spinal cord and resulting in organ enlargement and dysfunction.
