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Quantification of mitochondrial DNA mutation load

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Greaves , L. C., Beadle, N. E., Taylor , G. A., Commane, D., Mathers, J. C., Khrapko , K., Turnbul, D. M. and Taylor , R. (2009) Quantification of mitochondrial DNA mutation load. Aging Cell, 8 (5). pp. 566-572. ISSN 1474-9718

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To link to this article DOI: 10.1111/j.1474-9726.2009.00505.x

Abstract/Summary

Mitochondrial DNA (mtDNA) mutations are an important cause of genetic disease and have been proposed to play a role in the ageing process. Quantification of total mtDNA mutation load in ageing tissues is difficult as mutational events are rare in a background of wild-type molecules, and detection of individual mutated molecules is beyond the sensitivity of most sequencing based techniques. The methods currently most commonly used to document the incidence of mtDNA point mutations in ageing include post-PCR cloning, single-molecule PCR and the random mutation capture assay. The mtDNA mutation load obtained by these different techniques varies by orders of magnitude, but direct comparison of the three techniques on the same ageing human tissue has not been performed. We assess the procedures and practicalities involved in each of these three assays and discuss the results obtained by investigation of mutation loads in colonic mucosal biopsies from ten human subjects.

Item Type:Article
Refereed:Yes
Divisions:Faculty of Life Sciences > School of Chemistry, Food and Pharmacy > Department of Food and Nutritional Sciences > Human Nutrition Research Group
ID Code:26468
Uncontrolled Keywords:ageing; cloning; colon; human; mitochondria; mitochondrial DNA; mutation load; polymerase chain reaction
Publisher:Wiley-Blackwell

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