Analysis of the trinucleotide CAG repeat from the DNA polymerase γ gene (POLG) in patients with Parkinson's disease

The human gene for the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase (POLG) contains a trinucleotide CAG repeat encoding a polyglutamine tract near the amino-terminus of the protein. Expansions of similar polyglutamine-encoding CAG microsatellite repeats in other genes are known to cause neurodegenerative disorders. As mitochondrial dysfunction has been implicated in the aetiology of Parkinson's disease, we determined the POLG CAG repeat length in DNA samples extracted from 22 idiopathic Parkinson's disease patients and 31 control subjects. The distribution of the POLG CAG repeat length in the control samples matched the distribution reported for control samples by others. Comparison between the CAG repeat length distribution of control and Parkinson's disease samples revealed no evidence of either germ line or somatic POLG CAG repeat instability in Parkinson's disease patients. Our results rule out POLG CAG repeat instability as a common pathogenic mechanism in idiopathic Parkinson's disease.