Journal
JOURNAL OF PATHOLOGY
Volume 226, Issue 2, Pages 274-286Publisher
WILEY-BLACKWELL
DOI: 10.1002/path.3028
Keywords
mitochondrion; oxidative phosphorylation; disease; mitochondrial DNA; mutation
Funding
- Newcastle University Centre for Brain Ageing and Vitality
- BBSRC
- EPSRC
- ESRC
- MRC [G0700718]
- Wellcome Trust [074454/Z/04/Z]
- UK NIHR Biomedical Research Centre for Ageing and Age-related Disease
- UK NHS Specialist Commissioners
- MRC [G0601943, G0400074, G1100540, G0900652, G0502157] Funding Source: UKRI
- Medical Research Council [G0900652, G0700718, G0601943, G0502157, G0400074, G1100540] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0510-10187] Funding Source: researchfish
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Mitochondrial DNA (mtDNA) defects are a relatively common cause of inherited disease and have been implicated in both ageing and cancer. MtDNA encodes essential subunits of the mitochondrial respiratory chain and defects result in impaired oxidative phosphorylation (OXPHOS). Similar OXPHOS defects have been shown to be present in a number of neurodegenerative conditions, including Parkinson's disease, as well as in normal ageing human tissues. Additionally, a number of tumours have been shown to contain mtDNA mutations and an altered metabolic phenotype. In this review we outline the unique characteristics of mitochondrial genetics before detailing important pathological features of mtDNA diseases, focusing on adult neurological disease as well as the role of mtDNA mutations in neurodegenerative diseases, ageing and cancer. Copyright (C) 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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