Quantification of mitochondrial DNA mutation load

Greaves, Laura C., Beadle, Nina E., Taylor, Geoffrey A., Commane, Daniel, Mathers, John C., Khrapko, Konstantin and Turnbull, Doug M. (2009) Quantification of mitochondrial DNA mutation load. Aging Cell, 8 (5). pp. 566-572. ISSN 1474-9718

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Official URL: http://dx.doi.org/10.1111/j.1474-9726.2009.00505.x

Abstract

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
Uncontrolled Keywords: ageing; cloning; colon; human; mitochondria; mitochondrial DNA; mutation load; polymerase chain reaction
Subjects: C400 Genetics
C700 Molecular Biology, Biophysics and Biochemistry
Department: Faculties > Health and Life Sciences > Applied Sciences
Depositing User: Paul Burns
Date Deposited: 17 Jan 2019 16:25
Last Modified: 12 Oct 2019 11:21
URI: http://nrl.northumbria.ac.uk/id/eprint/37636

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