No conflicts of interest were declared.
Mitochondrial DNA and disease†
Article first published online: 21 NOV 2011
Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
The Journal of Pathology
Special Issue: The Cell Biology of Disease
Volume 226, Issue 2, pages 274–286, January 2012
How to Cite
Greaves, L. C., Reeve, A. K., Taylor, R. W. and Turnbull, D. M. (2012), Mitochondrial DNA and disease. J. Pathol., 226: 274–286. doi: 10.1002/path.3028
- Issue published online: 1 DEC 2011
- Article first published online: 21 NOV 2011
- Accepted manuscript online: 12 OCT 2011 05:25AM EST
- Manuscript Accepted: 5 OCT 2011
- Manuscript Revised: 27 SEP 2011
- Manuscript Received: 5 AUG 2011
- oxidative phosphorylation;
- mitochondrial DNA;
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 © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.