Author:
Gravel Roy A.,Triggs-Raine Barbara L.,Mahuran Don J.
Abstract
ABSTRACT: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.
Publisher
Cambridge University Press (CUP)
Subject
Neurology (clinical),Neurology,General Medicine
Reference54 articles.
1. Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program;Paw;Am J Hum Genet,1990
2. Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews
3. Normal transcription of the β-hex-osaminidase α-chain gene in the Ashkenazi Tay-Sachs mutation;Paw;J Biol Chem,1988
4. More than one mutant allele causes infantile Tay-Sachs disease in French-Canada;Hechtman;Am J Hum Genet
5. Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders
Cited by
29 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献