ParkinsonCanadaV1, Main, Exploration, bibRecord, 001A17

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease.

Identifieur interne : 001A17 ( Main/Exploration ); précédent : 001A16; suivant : 001A18

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease.

Auteurs : Bahareh Behrouz [États-Unis] ; Carles Vilari O-Güell ; Michael G. Heckman ; Alexandra I. Soto-Ortolaza ; Jan O. Aasly ; Sigrid Sando ; Timothy Lynch ; David Craig ; Ryan J. Uitti ; Zbigniew K. Wszolek ; Owen A. Ross ; Matthew J. Farrer

Source :

Neuroscience letters [ 1872-7972 ] ; 2010.

RBID : pubmed:20887776

Descripteurs français

Wicri :
- geographic : Norvège, États-Unis.

English descriptors

KwdEn :
- Adenosine Triphosphate (biosynthesis), Adenosine Triphosphate (genetics), Adult, Aged, Aged, 80 and over, Case-Control Studies, Eukaryotic Initiation Factors (biosynthesis), Eukaryotic Initiation Factors (genetics), European Continental Ancestry Group (ethnology), European Continental Ancestry Group (genetics), Female, Genetic Association Studies (methods), Genetic Association Studies (trends), Genetic Predisposition to Disease, Humans, Ireland (ethnology), Male, Middle Aged, Mitochondrial Diseases (diagnosis), Mitochondrial Diseases (genetics), Mitochondrial Diseases (metabolism), Mitochondrial Proteins (biosynthesis), Mitochondrial Proteins (genetics), Norway (ethnology), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson Disease (metabolism), Polymorphism, Single Nucleotide (genetics), United States (ethnology).
MESH :
- chemical , biosynthesis : Adenosine Triphosphate, Eukaryotic Initiation Factors, Mitochondrial Proteins.
- chemical , genetics : Adenosine Triphosphate, Eukaryotic Initiation Factors, Mitochondrial Proteins.
- geographic , ethnology : Ireland, Norway, United States.
- diagnosis : Mitochondrial Diseases, Parkinson Disease.
- ethnology : European Continental Ancestry Group.
- genetics : European Continental Ancestry Group, Mitochondrial Diseases, Parkinson Disease, Polymorphism, Single Nucleotide.
- metabolism : Mitochondrial Diseases, Parkinson Disease.
- methods : Genetic Association Studies.
- trends : Genetic Association Studies.
- Adult, Aged, Aged, 80 and over, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged.

Abstract

Mitochondrial dysfunction has been proposed to play a role in the pathogenesis of Parkinson's disease (PD). Supportive of this hypothesis, several genetic variants that regulate mitochondrial function and homeostasis have been described to alter PD susceptibility. A recent report demonstrated association of a single nucleotide polymorphism in the mitochondrial translation initiation factor 3 (MTIF3) gene with PD risk. The protein encoded by this nuclear gene is essential for initiation complex formation on the mitochondrial 55S ribosome and regulates translation of proteins within the mitochondria. Changes in the function or expression of the MTIF3 protein may result in altered mitochondrial function, ATP production or formation of reactive oxygen species thereby affecting susceptibility to PD. We examined the association of rs7669 with sporadic PD in three Caucasian case control series (n=2434). A significant association was observed in the largest series (Norwegian; n=1650) when comparing CC vs. CT/TT genotypes, with the Irish and US series having a similar but non-significant trend. The combined series also revealed an association with risk of PD (P=0.01), supporting the possible involvement of this gene in PD etiology.

DOI: 10.1016/j.neulet.2010.09.059
PubMed: 20887776

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">Mitochondrial dysfunction has been proposed to play a role in the pathogenesis of Parkinson's disease (PD). Supportive of this hypothesis, several genetic variants that regulate mitochondrial function and homeostasis have been described to alter PD susceptibility. A recent report demonstrated association of a single nucleotide polymorphism in the mitochondrial translation initiation factor 3 (MTIF3) gene with PD risk. The protein encoded by this nuclear gene is essential for initiation complex formation on the mitochondrial 55S ribosome and regulates translation of proteins within the mitochondria. Changes in the function or expression of the MTIF3 protein may result in altered mitochondrial function, ATP production or formation of reactive oxygen species thereby affecting susceptibility to PD. We examined the association of rs7669 with sporadic PD in three Caucasian case control series (n=2434). A significant association was observed in the largest series (Norwegian; n=1650) when comparing CC vs. CT/TT genotypes, with the Irish and US series having a similar but non-significant trend. The combined series also revealed an association with risk of PD (P=0.01), supporting the possible involvement of this gene in PD etiology.</div>
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La maladie de Parkinson au Canada (serveur d'exploration)

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease.

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	La maladie de Parkinson au Canada (serveur d'exploration)
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