title: Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease.
abstract: Like any organ, the brain is susceptible to the march of time and a reduction in mitochondrial biogenesis is a hallmark of the aging process. In the largest investigation of mitochondrial copy number in Parkinson's disease (PD) to date and by using multiple tissues, we demonstrate that reduced Parkinson DNA (mitochondrial DNA mtDNA) copy number is a biomarker for the etiology of PD. We used established methods of mtDNA quantification to assess the copy number of mtDNA in n = 363 peripheral blood samples, n = 151 substantia nigra pars compacta tissue samples and n = 120 frontal cortex tissue samples from community-based PD cases fulfilling UK-PD Society brain bank criteria for the diagnosis of PD. Accepting technical limitations, our data show that PD patients suffer a significant reduction in mtDNA copy number in both peripheral blood and the vulnerable substantia nigra pars compacta when compared to matched controls. Our study indicates that reduced mtDNA copy number is restricted to the affected brain tissue, but is also reflected in the peripheral blood, suggesting that mtDNA copy number may be a viable diagnostic predictor of PD.
authors.affiliation: Mitochondrial Research Group, Institute of Genetic Medicine, University of Newcastle Upon Tyne, UK.
authors.forename: Angela
authors.initials: A
authors.lastname: Pyle
authors.affiliation: Mitochondrial Research Group, Institute of Genetic Medicine, University of Newcastle Upon Tyne, UK.
authors.forename: Haidyan
authors.initials: H
authors.lastname: Anugrha
authors.affiliation: Mitochondrial Research Group, Institute of Genetic Medicine, University of Newcastle Upon Tyne, UK.
authors.forename: Marzena
authors.initials: M
authors.lastname: Kurzawa-Akanbi
authors.affiliation: Insitutute of Neuroscience, University of Newcastle Upon Tyne, UK.
authors.forename: Alison
authors.initials: A
authors.lastname: Yarnall
authors.affiliation: Insitutute of Neuroscience, University of Newcastle Upon Tyne, UK.
authors.forename: David
authors.initials: D
authors.lastname: Burn
authors.affiliation: Mitochondrial Research Group, Institute of Genetic Medicine, University of Newcastle Upon Tyne, UK. Electronic address: Gavin.Hudson@ncl.ac.uk.
authors.forename: Gavin
authors.initials: G
authors.lastname: Hudson
mesh_terms: D015415:Biomarkers / Q000032:analysis; D015331:Cohort Studies; D056915:DNA Copy Number Variations / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D010300:Parkinson Disease / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D015415:Biomarkers; D004272:DNA, Mitochondrial
keywords: Biomarker; Mitochondria; Parkinson's disease