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Biochemistry and Genetics of Tay-Sachs Disease

Published online by Cambridge University Press:  18 September 2015

Roy A. Gravel ,
Barbara L. Triggs-Raine  and
Don J. Mahuran
Roy A. Gravel*
Affiliation:
McGill University-Montreal Children's Hospital Research Institute, Montreal
Barbara L. Triggs-Raine
Affiliation:
McGill University-Montreal Children's Hospital Research Institute, Montreal
Don J. Mahuran
Affiliation:
Research Institute, Hospital for Sick Children, Toronto
*
McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3
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Abstract:

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

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 18 , Issue S3 , August 1991 , pp. 419 - 423
Copyright
Copyright © Canadian Neurological Sciences Federation 1991

References

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