Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease
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- 作者：Nadine Abahuni ; Suzana Gispert ; Peter Bauer ; Olaf Riess ; Rejko Krü ; ger ; Tim Becker ; Georg Auburger
- 关键词：Parkinson's disease ; Mitochondria ; MTIF3 ; Polymorphism
- 刊名：Neuroscience Letters
- 出版年：2007
- 出版时间：6 March 2007
- 年：2007
- 卷：414
- 期：2
- 页码：126-129
- 全文大小：314 K
文摘
Mitochondrial dysfunction occurs early in late-onset sporadic Parkinson's disease (PD), but the mitochondrial protein network mediating PD pathogenesis is largely unknown. Mutations in the mitochondrial serine-threonine kinase PINK1 have recently been shown to cause the early-onset autosomal recessive PARK6 variant of PD. We have now tested a candidate interactor protein of PINK1, the mitochondrial translation initiation factor 3 (MTIF3) for involvement in PD pathogenesis. In two independent case-control collectives, the c.798C>T polymorphism of the MTIF3 gene showed allelic association with PD, with a maximal significance of p = 0.0073. An altered function of variant MTIF3 may affect the availability of mitochondrial encoded proteins, lead to oxidative stress and create vulnerability for PD.