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Quantification of mitochondrial DNA mutation load

Lookup NU author(s): Dr Laura Greaves, Nina Beadle, Geoffrey Taylor, Dr Daniel Commane, Professor John Mathers, Emeritus Professor Doug Turnbull



P>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.

Publication metadata

Author(s): Greaves LC, Beadle NE, Taylor GA, Commane D, Mathers JC, Khrapko K, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Aging Cell

Year: 2009

Volume: 8

Issue: 5

Pages: 566-572

Date deposited: 27/05/2010

ISSN (print): 1474-9718

ISSN (electronic): 1474-9726

Publisher: Wiley-Blackwell Publishing Ltd.


DOI: 10.1111/j.1474-9726.2009.00505.x


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Funder referenceFunder name
N12015Wellcome Trust, Food Standards Agency (UK)
Biotechnology and Biomedical Sciences Research Council (UK)
Cancer Research UK