Biochemistry and genetics of Tay-Sachs disease.

摘要: Tay-Sachs disease is one of the few neurodegenerative diseases known causes. It results from mutations HEXA gene encoding alpha subunit beta-hexosaminidase, producing a destructive ganglioside accumulation in lysosomes, principally neurons. With determination protein sequence and beta subunits, deduced cDNA sequences, complex pathway subcellular lysosomal processing enzyme has been determined. More recently, detailed knowledge structure allowed specific causing disease. The high incidence Ashkenazi Jews attributed predominantly to three present frequency, while non-Jews some two dozen have identified thus far. cataloguing important implications for carrier screening prenatal diagnosis