DOENÇA DE TAY-SACHS - Genética - ufcspa

ABSTRACT
Tay Sachs Disease is a gangliosidosis in which there is storage of GM2
ganglioside in neurons. This gangliosidic storage is owned to an enzymatic defect in
Hex A enzyme due to mutations in its encoding gene, HEXA gene, resulting in different
phenotypes (acute, subacute, chronic and B1 variant). This disorder exhibits a recessive
autossomic inheritance pattern and it is particularly prevalent between Ashkenazi jews;
screening programs are suggested for this population. Yet today there is no effective
therapy for Tay Sachs Disease, however, several technics are being developed.
KEYWORDS: Tay Sachs Disease, HEXA gene, hexosaminidase A,
mutations, Ashkenazi jews.
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