Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease

Abahuni, Nadine; Gispert, Suzana; Bauer, Péter; Rieß, Olaf; Krüger, Rejko; Becker, Tim; Auburger, Georg

doi:10.1016/j.neulet.2006.12.053

Cited by 26 publications

(15 citation statements)

References 29 publications

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“…In Drosophila , PINK1 was predicted based on yeast two-hybrid study to interact with the Drosophila homologue of the mammalian mitochondrial translation initiation factor 3 (MTIF3), which promotes the initiation complex formation on 55S mitochondrial ribosomes. Intriguingly, in two independent case-control collections, a c.798C>T polymorphism of the MTIF3 gene showed allelic association with PD (Abahuni et al, 2007). Although this association requires further validation in larger studies of patients from various ethnic groups, it raised the possibility that altered translation of mitochondrial-encoded mRNAs can lead to susceptibility to PD.…”

Section: Introductionmentioning

confidence: 96%

RNA metabolism in the pathogenesis of Parkinson׳s disease

Gehrke

2014

Brain Research

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Neurodegenerative diseases such as Parkinson’s disease are progressive disorders of the nervous system that affect the function and maintenance of specific neuronal populations. While most disease cases are sporadic with no known cause, a small percentage of disease cases is caused by inherited genetic mutations. The identification of genes associated with the familial forms of the diseases and subsequent studies of proteins encoded by the disease genes in cellular or animals models have offered much-needed insights into the molecular and cellular mechanisms underlying disease pathogenesis. Recent studies of the familial Parkinson’s disease genes have emphasized the importance of RNA metabolism, particularly mRNA translation, in the disease process. It is anticipated that continued studies on the role of RNA metabolism in Parkinson’s disease will offer unifying mechanisms for understanding the cause of neuronal dysfunction and degeneration and facilitate the development of novel and rational strategies for treating this debilitating disease.

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Section: Introductionmentioning

confidence: 96%

RNA metabolism in the pathogenesis of Parkinson׳s disease

Gehrke

2014

Brain Research

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“…As to the translation machinery, a polymorphism in one of the two mitochondrial translation initiation factors that operate in mammalian mitochondria - translation initiation factor 3 (MTIF3) - was recently associated with PD risk [203-205]. The protein is crucial for ribosome assembly and initiation of translation in mitochondria; reviewed in [187].…”

Section: Polymorphisms In Nuclear Genes Involved In Mitochondrial Funmentioning

confidence: 99%

“…The protein is crucial for ribosome assembly and initiation of translation in mitochondria; reviewed in [187]. The rs7669 c.798C>T polymorphism of the MTIF3 gene showed allelic or genotype association with PD [203-205]. The rs7669 T/T-genotype is associated with a decreased MTIF3 mRNA expression in comparison to the C/C-genotype [205], (Fig.…”

Section: Polymorphisms In Nuclear Genes Involved In Mitochondrial Funmentioning

confidence: 99%

The Impact of Mitochondrial DNA and Nuclear Genes Related to Mitochondrial Functioning on the Risk of Parkinson’s Disease

Gawęda-Walerych

Żekanowski

2014

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Mitochondrial dysfunction and oxidative stress are the major factors implicated in Parkinson’s disease (PD) pathogenesis. The maintenance of healthy mitochondria is a very complex process coordinated bi-genomically. Here, we review association studies on mitochondrial haplogroups and subhaplogroups, discussing the underlying molecular mechanisms. We also focus on variation in the nuclear genes (NDUFV2, PGC-1alpha, HSPA9, LRPPRC, MTIF3, POLG1, and TFAM encoding NADH dehydrogenase (ubiquinone) flavoprotein 2, peroxisome proliferator-activated receptor gamma coactivator 1-alpha, mortalin, leucine-rich pentatricopeptide repeat containing protein, translation initiation factor 3, mitochondrial DNA polymerase gamma, and mitochondrial transcription factor A, respectively) primarily linked to regulation of mitochondrial functioning that recently have been associated with PD risk. Possible interactions between mitochondrial and nuclear genetic variants and related proteins are discussed.

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“…Mitochondrial initiation factor 3 (IF3mt, MTIF3) is involved in translation initiation through a direct binding with fMet tRNA and plays a role in subunit dissociation [Christian and Spremulli 2009]. Notably, mutations in the IF2mt gene have been implicated in susceptibility to Parkinson's disease [Abahuni et al, 2007]. …”

Section: Mitochondrial Translationmentioning

confidence: 99%

A compendium of human mitochondrial gene expression machinery with links to disease

Shutt

Shadel

2010

Environ and Mol Mutagen

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Mammalian mitochondrial DNA encodes thirty-seven essential genes required for ATP production via oxidative phosphorylation, instability or misregulation of which is associated with human diseases and aging. Other than the mtDNA-encoded RNA species (thirteen mRNAs, 12S and 16S rRNAs, and twenty-two tRNAs), the many remaining factors needed for mitochondrial gene expression (i.e. transcription, RNA processing/modification and translation), including a dedicated set of mitochondrial ribosomal proteins, are products of nuclear genes that are imported into the mitochondrial matrix. Herein, we inventory the human mitochondrial gene expression machinery, and while doing so highlight specific associations of these regulatory factors with human disease. Major new breakthroughs have been made recently in this burgeoning area that set the stage for exciting future studies on the key outstanding issue of how mitochondrial gene expression is regulated differentially in vivo. This should promote a greater understanding of why mtDNA mutations and dysfunction cause the complex and tissue-specific pathology characteristic of mitochondrial disease states and how mitochondrial dysfunction contributes to more common human pathology and aging.

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Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease

Cited by 26 publications

References 29 publications

RNA metabolism in the pathogenesis of Parkinson׳s disease

RNA metabolism in the pathogenesis of Parkinson׳s disease

The Impact of Mitochondrial DNA and Nuclear Genes Related to Mitochondrial Functioning on the Risk of Parkinson’s Disease

A compendium of human mitochondrial gene expression machinery with links to disease

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