Rare POLG1 CAG variants do not influence Parkinson's disease or polymerase gamma function

A recent meta-analysis suggested that rare CAG repeat variants in the gene that encodes polymerase gamma (POLG1) predispose individuals to develop Parkinson's disease (PD); alternative alleles were proposed to increase risk by 27%. In the current case-control study of 2255 Australians, we obser...

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Bibliographic Details
Published inMitochondrion Vol. 15; pp. 65 - 68
Main Authors Bentley, Steven R, Shan, Jianguo, Todorovic, Michael, Wood, Stephen A, Mellick, George D
Format Journal Article
LanguageEnglish
Published Netherlands 01.03.2014
Subjects
Australia
Case-Control Studies
Disease Susceptibility
DNA Polymerase gamma
DNA-Directed DNA Polymerase - genetics
DNA-Directed DNA Polymerase - metabolism
Humans
Mutant Proteins - genetics
Mutant Proteins - metabolism
Parkinson Disease - pathology
CAG
Mitochondria
POLG1
Neurodegeneration
Trinucleotide
Parkinson
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Summary:A recent meta-analysis suggested that rare CAG repeat variants in the gene that encodes polymerase gamma (POLG1) predispose individuals to develop Parkinson's disease (PD); alternative alleles were proposed to increase risk by 27%. In the current case-control study of 2255 Australians, we observed no statistical association between individuals possessing rare CAG repeat genotypes and PD (p=0.178); a subsequent meta-analysis of 2852 PD cases and 2833 controls was also non-significant (OR=1.085, p=0.124). Moreover, mitochondrial DNA synthesis (p=0.427) or Complex I activity (p=0.639) were not different in cells derived from individuals with different POLG1 genotypes. These data provide no evidence to suggest CAG repeat length in POLG1 affects PD susceptibility.
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ISSN:1567-7249
1872-8278
DOI:10.1016/j.mito.2014.01.004