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Somatic mtDNA variation is an important component of Parkinson's disease

Lookup NU author(s): Dr Jonathan Coxhead, Dr Marzena Kurzawa-Akanbi, Raf Hussain, Dr Angela Pyle, Professor Patrick Chinnery, Professor Gavin Hudson



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


There is a growing body of evidence linking mitochondrial dysfunction, mediated either through inherited mitochondrial DNA (mtDNA) variation or mitochondrial proteomic deficit, to Parkinson's disease (PD). Yet, despite this, the role of somatic mtDNA point mutations and specifically point-mutational burden in PD is poorly understood. Here, we take advantage of recent technical and methodological advances to examine the role of age-related and acquired mtDNA mutation in the largest study of mtDNA in postmortem PD tissue to date. Our data show that PD patients suffer an increase in mtDNA mutational burden in, but no limited to, the substantia nigra pars compacta when compared to matched controls. This mutational burden appears increased in genes encoding cytochrome c oxidase, supportive of previous protein studies of mitochondrial dysfunction in PD. Accepting experimental limitations, our study confirms the important role of age-related mtDNA point mutation in the etiology of PD, moreover, by analyzing 2 distinct brain regions, we are able to show that PD patient brains are more vulnerable to mtDNA mutation overall. (C) 2016 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license.

Publication metadata

Author(s): Coxhead J, Kurzawa-Akanbi M, Hussain R, Pyle A, Chinnery P, Hudson G

Publication type: Article

Publication status: Published

Journal: Neurobiology of Aging

Year: 2016

Volume: 38

Pages: 217.e1-217.e6

Print publication date: 01/02/2016

Online publication date: 06/11/2015

Acceptance date: 30/10/2015

ISSN (print): 0197-4580

ISSN (electronic): 1558-1497

Publisher: Elsevier Inc.


DOI: 10.1016/j.neurobiolaging.2015.10.036


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Funder referenceFunder name
Medical Research Council
101876Wellcome Trust
101876/Z/13/ZWellcome Trust
F-1202Parkinson's UK
G0400074Medical Research Council
G0502157Medical Research Council
G0900652Medical Research Council
G1100540Medical Research Council
MR/K000608/1Medical Research Council
MR/L016451/1Medical Research Council