Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease
| العنوان: | Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease |
|---|---|
| المؤلفون: | Suzana Gispert, Tim Becker, Georg Auburger, Olaf Riess, Rejko Krüger, Peter O. Bauer, Nadine Abahuni |
| المصدر: | Neuroscience Letters. 414:126-129 |
| بيانات النشر: | Elsevier BV, 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | Genetic Markers, Male, Mitochondrial Diseases, Parkinson's disease, Genotype, DNA Mutational Analysis, PINK1, Mitochondrion, Biology, Linkage Disequilibrium, Mitochondrial Proteins, Pathogenesis, Predictive Value of Tests, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Eukaryotic Initiation Factors, Allele, Gene, Genetics, Polymorphism, Genetic, General Neuroscience, Parkinson Disease, medicine.disease, Mutation, DNAJA3, Female, Gene polymorphism, Protein Kinases |
| الوصف: | 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. |
| تدمد: | 0304-3940 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afbd14e46c294b34eb0b334dab0ad493Test https://doi.org/10.1016/j.neulet.2006.12.053Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....afbd14e46c294b34eb0b334dab0ad493 |
| قاعدة البيانات: | OpenAIRE |
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