Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 Mar:15:65-8.
doi: 10.1016/j.mito.2014.01.004. Epub 2014 Jan 31.

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

Steven R Bentley  1 , Jianguo Shan  1 , Michael Todorovic  1 , Stephen A Wood  1 , George D Mellick  2
Affiliations

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

Steven R Bentley et al. Mitochondrion. 2014 Mar.

Abstract

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.

Keywords: CAG; Mitochondria; Neurodegeneration; POLG1; Parkinson; Trinucleotide.

PubMed Disclaimer

LinkOut - more resources