Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease.
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.
Abahuni
Nadine
N
Institute for Experimental Neurobiology, University Hospital Frankfurt/Main, Germany.
Gispert
Suzana
S
Bauer
Peter
P
Riess
Olaf
O
Krüger
Rejko
R
Becker
Tim
T
Auburger
Georg
G
D004252:DNA Mutational Analysis; D039642:Eukaryotic Initiation Factors / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D011237:Predictive Value of Tests; D011494:Protein Kinases / Q000235:genetics; D000099202:PTEN-Induced Putative Kinase
D039642:Eukaryotic Initiation Factors; D005819:Genetic Markers; D024101:Mitochondrial Proteins; D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase; C519156:MTIF3 protein, human