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Age related mitochondrial degenerative disorders in humans

Lookup NU author(s): Dr Amy Reeve, Emeritus Professor Doug Turnbull


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Disorders caused by mitochondrial respiratory chain deficiency due to mutations in mitochondrial DNA have varied phenotypes but many involve neurological features often associated with cell loss within specific brain regions. These disorders, along with the increasing evidence of decline in mitochondrial function with ageing, have raised speculation that primary changes in mitochondria could have an important role in age-related neurodegenerative diseases such as Parkinson's disease (PD) and Alzheimer's disease (AD). Evidence supporting a role for mitochondria in common neurodegenerative diseases comes from studies with the toxin MPP+ and familial PD, which has been shown to involve proteins such as DJ-1 and Pink1 (both of which are predicted to have a role in mitochondrial function and oxidative stress). Mutations within the mitochondrial genome have been shown to accumulate with age and in common neurodegenerative diseases. Mitochondrial DNA haplogroups have also been shown to be associated with certain neurodegenerative conditions. This review covers the primary mitochondrial diseases but also discuss the potential role of mitochondria and mitochondrial DNA mutations in mitochondrial and neurodegenerative diseases, in particular in PD and in AD.

Publication metadata

Author(s): Reeve AK, Krishnan KJ, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Biotechnology Journal

Year: 2008

Volume: 3

Issue: 6

Pages: 750-756

ISSN (print): 1860-6768

ISSN (electronic): 1860-7314

Publisher: Wiley - V C H Verlag GmbH & Co. KGaA


DOI: 10.1002/biot.200800066

Notes: Special Issue: Mitochondria and Aging


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