Rare POLG1 CAG variants do not influence Parkinson's disease or polymerase gamma function

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• 作者：Steven R. Bentley ; Jianguo Shan ; Michael Todorovic ; Stephen A. Wood ; George D. Mellick ; ^{g.mellick@griffith.edu.au" class="auth_mail}
• 关键词：mtDNA ; Mitochondrial DNA ; PD ; Parkinson's disease
• 刊名：Mitochondrion
• 出版年：March 2014
• 年：2014
• 卷：15
• 期：Complete
• 页码：65-68
• 全文大小：395 K

文摘

A recent meta-analysis suggested that rare CAG repeat variants in the gene that encodes polymerase gamma (POLG1) predispose individuals to develop Parkinson's disease (PD); alternative alleles were proposed to increase risk by 27%. In the current case–control study of 2255 Australians, we observed no statistical association between individuals possessing rare CAG repeat genotypes and PD (p = 0.178); a subsequent meta-analysis of 2852 PD cases and 2833 controls was also non-significant (OR = 1.085, p = 0.124). Moreover, mitochondrial DNA synthesis (p = 0.427) or Complex I activity (p = 0.639) were not different in cells derived from individuals with different POLG1 genotypes. These data provide no evidence to suggest CAG repeat length in POLG1 affects PD susceptibility.