Abstract
Hexosaminidase A (HEX A) hydrolyzes GM2 ganglioside. Mutations in HEX A are the cause of recessive neuronal storage disorder Tay–Sachs disease, which is defined by accumulation of gangliosides and related glycolipids in the brain and nervous system. Tay–Sachs patients develop progressive mental and motor deterioration and die before 4 years of age. Like humans, mice have HEX A isoenzyme. This chapter presents a study in which HEX A–/– mice developed normally and had the biochemical and neuropathologic features of Tay–Sachs disease. The mice were completely devoid of β-hexosaminidase A activity and accumulated GM2 gangliosides in their central nervous system (CNS) in an age-dependent manner. The accumulated ganglioside stored in neurons as membranous cytoplasmic bodies. The mice showed no apparent defects in motor or memory function, they were fertile and had a normal lifespan. This study demonstrates that Hexa deficiency in mice does not lead to detectable neurological disorders. The HexA–/– Tay–Sachs disease model in mice should be useful for devising strategies to introduce functional enzyme and genes into the CNS.
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