罕见的 POLG1 CAG 变异不会影响帕金森病或聚合酶γ功能。
Rare POLG1 CAG variants do not influence Parkinson's disease or polymerase gamma function.
机构信息
Eskitis Institute for Drug Discovery, Griffith University, Brisbane, Queensland, Australia.
Eskitis Institute for Drug Discovery, Griffith University, Brisbane, Queensland, Australia.
出版信息
Mitochondrion. 2014 Mar;15:65-8. doi: 10.1016/j.mito.2014.01.004. Epub 2014 Jan 31.
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.
最近的一项荟萃分析表明，编码聚合酶γ（POLG1）的基因中罕见的 CAG 重复变异使个体易患帕金森病（PD）；替代等位基因被认为会使风险增加 27%。在对 2255 名澳大利亚人的病例对照研究中，我们没有观察到个体携带罕见的 CAG 重复基因型与 PD 之间存在统计学关联（p=0.178）；对 2852 例 PD 病例和 2833 例对照的后续荟萃分析也无显著性意义（OR=1.085，p=0.124）。此外，源自不同 POLG1 基因型个体的细胞中线粒体 DNA 合成（p=0.427）或复合物 I 活性（p=0.639）没有差异。这些数据没有提供证据表明 POLG1 中的 CAG 重复长度会影响 PD 的易感性。
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