NDLI: Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.

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Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.

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Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Chiano, M. Leggo, J. Norbury, G. Rosser, E. Craufurd, D. Rubinsztein, D. C. Dodge, A.
Description	Author Affiliation: Rubinsztein DC ( East Anglian Medical Genetics Service Molecular Genetics Laboratory, Addenbrooke's NHS Trust, Cambridge, United Kingdom.);
Abstract	Huntington disease (HD) is associated with abnormal expansions of a CAG repeat close to the 5' end of the IT15 gene. We have assembled a set of 293 HD subjects whose ages of onset were known and sized their HD CAG repeats. These repeats accounted for 69% of the variance of age of onset when we used the most parsimonious model, which relates the logarithm of age of onset to a function of CAG repeat number. Since other familial factors have been proposed to influence the age of onset of HD, we have examined a number of candidate loci. The CAG repeat number on normal chromosomes, the delta2642 polymorphism in the HD gene, and apolipoprotein E genotypes did not affect the age of onset of HD. Although mitochondrial energy production defects in HD have led to suggestions that variants in the mitochondrial genome may be associated with clinical variability in HD, this suggestion was not supported by our preliminary experiments that examined the DdeI mitochondrial restriction fragment length polymorphism at position 10,394. Excitotoxicity has been a favored mechanism to explain the cell death in HD, particularly since intrastriatal injection of excitatory amino acids in animals creates HD-like pathology. Accordingly, we investigated the GluR6 kainate receptor. Of the variance in the age of onset of HD that was not accounted for by the CAG repeats, 13% could be attributed to GluR6 genotype variation. These data implicate GluR6-mediated excitotoxicity in the pathogenesis of HD and highlight the potential importance of this process in other polyglutamine repeat expansion diseases.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	8
Volume Number	94
Language	English
Publisher	National Academy of Sciences
Publisher Date	1997-05-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Huntington Disease Genetics Receptors, Kainic Acid Genotype Epidemiology Research Support, Non-U.S. Gov't Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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