title: Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease.
abstract: 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.
authors.affiliation: University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK. j.taanman@rfc.ucl.ac.uk
authors.forename: Jan-Willem
authors.initials: JW
authors.lastname: Taanman
authors.forename: Anthony H V
authors.initials: AH
authors.lastname: Schapira
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D010455:Peptides / Q000235:genetics; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D010455:Peptides; D012333:RNA, Messenger; C097188:polyglutamine; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human