MISC

1998年1月

Association between the gene encoding the E2 subunit of the alpha-ketoglutarate dehydrogenase complex and Parkinson's disease

ANNALS OF NEUROLOGY
  • T Kobayashi
  • ,
  • H Matsumine
  • ,
  • S Matuda
  • ,
  • Y Mizuno

43
1
開始ページ
120
終了ページ
123
記述言語
英語
掲載種別
DOI
10.1002/ana.410430121
出版者・発行元
LIPPINCOTT WILLIAMS & WILKINS

Dihydrolipoamide succinyltransferase (E2, EC 2.3.1.61, chromosome 14q24.2-3) is a specific subunit of human alpha-ketoglutarate dehydrogenase complex. (KGDHC). A biallelic intragenic polymorphism was identified in E2 gene of KGDHC. It was a single nucleotide substitution between G (in allele 1) and A (in allele 2) at the position that does not change amino acid code. Using this intragenic polymorphism as a marker, we investigated the association between this gene and Parkinson's disease. Frequencies of the genotypes that carry allele 2 were significantly higher in the Parkinson's disease group than in the control group. The results indicated that a genetic variant of the E2 gene itself or in close proximity to the gene constitutes one of the genetic risk factors for Parkinson's disease.

リンク情報
DOI
https://doi.org/10.1002/ana.410430121
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000071504600017&DestApp=WOS_CPL
ID情報
  • DOI : 10.1002/ana.410430121
  • ISSN : 0364-5134
  • Web of Science ID : WOS:000071504600017

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