G08: Science Genetic Disorders: Tay Sachs Disease

Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (b-hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain tissue and certain organs. This abnormal accumulation of gangliosides leads to progressive dysfunction of the central nervous system. Tay-Sachs disease is categorized as a lysosomal storage disease. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or “digest” complex molecules such as mixtures of carbohydrates and fats (like glycosphingolipids). When one of these lysosomal enzymes (such as b-hexosaminidase A) is missing or ineffective, glycosphingolipids start to build up in the lysosome. If there is too much accumulation of these materials in the lysosome, the cells in the nervous system degenerate and die, triggering an inflammatory response that amplifies damage in surrounding tissue.