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Mitochondrial DNA mutations in neurodegeneration

Lookup NU author(s): Dr Michael Keogh, Professor Patrick Chinnery


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Mitochondrial dysfunction is observed in both the aging brain, and as a core feature of several neurodegenerative diseases. A central mechanism mediating this dysfunction is acquired molecular damage to mitochondrial DNA (mtDNA). In addition, inherited stable mtDNA variation (mitochondrial haplogroups), and inherited low level variants (heteroplasmy) have also been associated with the development of neurodegenerative disease and premature neural aging respectively. Herein we review the evidence for both inherited and acquired mtDNA mutations contributing to neural aging and neurodegenerative disease. This article is part of a Special Issue entitled: Mitochondrial Dysfunction in Aging. (c) 2015 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Keogh MJ, Chinnery PF

Publication type: Review

Publication status: Published

Journal: Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year: 2015

Volume: 1847

Issue: 11

Pages: 1401-1411

Print publication date: 01/11/2015

Online publication date: 23/05/2015

Acceptance date: 17/05/2015

ISSN (print): 0005-2728

ISSN (electronic): 0006-3002



DOI: 10.1016/j.bbabio.2015.05.015