Association between the gene encoding the E2 subunit of the ?-ketoglutarate dehydrogenase complex and Parkinson's disease
| Autor: | Yoshikuni Mizuno, Tomonori Kobayashi, Hiroto Matsumine, Sadayuki Matuda |
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| Rok vydání: | 1998 |
| Předmět: |
Male
Parkinson's disease Genotype Protein subunit Biology Age Distribution Gene Frequency medicine Humans Ketoglutarate Dehydrogenase Complex Allele Allele frequency Gene Alleles Polymorphism Single-Stranded Conformational Aged Genetics Polymorphism Genetic Parkinson Disease Middle Aged medicine.disease Neurology Female Neurology (clinical) Gene polymorphism Oxoglutarate dehydrogenase complex |
| Zdroj: | Annals of Neurology. 43:120-123 |
| ISSN: | 1531-8249 0364-5134 |
| DOI: | 10.1002/ana.410430121 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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