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mtDNA mutations and common neurodegenerative disorders

Lookup NU author(s): Dr Joanna Elson, Professor Patrick Chinnery, Emeritus Professor Doug Turnbull


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The incidence and prevalence of Alzheimer's disease (AD) and Parkinson's disease (PD) are increasing as the population ages. Both disorders have been associated with oxidative stress and mitochondrial dysfunction, and it has been proposed that mutations in the mitochondrial genome have a key role in neurodegeneration in AD and PD patients. Two recent publications propose that heteroplasmic mtDNA mutations are involved in AD and PD. However, when these new studies are considered in relation to the sum of previous evidence, the role of mtDNA mutations in the development of either AD or PD still remains to be established. © 2005 Elsevier Ltd. All rights reserved.

Publication metadata

Author(s): Howell N, Elson JL, Chinnery PF, Turnbull DM

Publication type: Review

Publication status: Published

Journal: Trends in Genetics

Year: 2005

Volume: 21

Issue: 11

Pages: 583-586

Print publication date: 01/11/2005

ISSN (print): 0168-9525

ISSN (electronic): 1362-4555


DOI: 10.1016/j.tig.2005.08.012

PubMed id: 16154228