Reference : Mitochondrial translation initiation factor 3 gene polymorphism associated with Parki...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease.
Abahuni, Nadine [> >]
Gispert, Suzana [> >]
Bauer, Peter [> >]
Riess, Olaf [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Becker, Tim [> >]
Auburger, Georg [> >]
Neuroscience Letters
Yes (verified by ORBilu)
[en] 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
[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.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

File(s) associated to this reference

Fulltext file(s):

Limited access
Abahuni et al., Neuroscience Letters, 2007.pdfPublisher postprint314.24 kBRequest a copy

Bookmark and Share SFX Query

All documents in ORBilu are protected by a user license.