Keywords :
DNA Mutational Analysis; Eukaryotic Initiation Factors/genetics; Female; Genetic Markers/genetics; Genetic Predisposition to Disease/genetics; Genetic Testing; Genotype; Humans; Linkage Disequilibrium; Male; Mitochondrial Diseases/genetics/metabolism/physiopathology; Mitochondrial Proteins/genetics; Mutation/genetics; Parkinson Disease/genetics/metabolism/physiopathology; Polymorphism, Genetic/genetics; Predictive Value of Tests; Protein Kinases/genetics
Abstract :
[en] 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.
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