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In: Neurochemistry of Metabolic Diseases ISBN: 978-1-53618-339-9
Editor: Sankar Surendran © 2020 Nova Science Publishers, Inc.
Chapter 5
GM2 GANGLIOSIDOSIS /TAY SACHS
DISEASE: MOLECULAR MECHANISM
AND THERAPEUTIC EFFECT
Jayesh Sheth
and Aadhira Nair
Foundation for Research in Genetics and Endocrinology (FRIGE),
Institute of Human Genetics, Ahmedabad, Gujarat, India
ABSTRACT
GM2 gangliosidoses are a group of autosomal recessive disorders
caused by mutations in anyone of these three genes: HEXA, HEXB, and
GM2A. The proteins encoded by these genes are essential for the
catabolism of GM2 ganglioside. Deficiency of these enzymes leads to an
accumulation of the substrate inside neuronal lysosomes and nerve cell
death. Tay-Sachs disease, Sandhoff disease and GM2 activator protein
deficiency are included under GM2 gangliosidoses. The incidence and
prevalence of Tay-Sachs disease is found to be higher in certain
populations particularly the Ashkenazi Jews, which suggests a founder
Corresponding Author’s Email: jayesh.sheth@frige.co.in.
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