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Quantification of random mutations in the mitochondrial genome

Vermulst, Marc and Bielas, Jason H. and Loeb, Lawrence A. (2008) Quantification of random mutations in the mitochondrial genome. Methods, 46 (4). pp. 263-268. ISSN 1046-2023. doi:10.1016/j.ymeth.2008.10.008.

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Mitochondrial DNA (mtDNA) mutations contribute to the pathology of a number of age-related disorders, including Parkinson disease [A. Bender et al., Nat. Genet. 38 (2006) 515,Y. Kraytsberg et al., Nat. Genet. 38 (2006) 518], muscle-wasting [J. Wanagat, Z. Cao, P. Pathare, J.M. Aiken, FASEB J. 15 (2001) 322], and the metastatic potential of cancers [K. Ishikawa et al., Science 320 (2008) 661]. The impact of mitochondrial DNA mutations on a wide variety of human diseases has made it increasingly important to understand the mechanisms that drive mitochondrial mutagenesis. In order to provide new insight into the etiology and natural history of mtDNA mutations, we have developed an assay that can detect mitochondrial mutations in a variety of tissues and experimental settings [M. Vermulst et al., Nat. Genet. 40 (2008) 4, M. Vermulst et al., Nat. Genet. 39 (2007) 540]. This methodology, termed the Random Mutation Capture assay, relies on single-molecule amplification to detect rare mutations among millions of wild-type bases [J.H. Bielas, L.A. Loeb, Nat. Methods 2 (2005) 285], and can be used to analyze mitochondrial mutagenesis to a single base pair level in mammals.

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Additional Information:Copyright © 2008 Elsevier. Accepted 11 October 2008. Available online 21 October 2008.
Subject Keywords:Mitochondria; Mitochondrial DNA; Random mutations; Mutagenesis; qPCR; Mutation detection
Issue or Number:4
Record Number:CaltechAUTHORS:VERm08
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Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:12918
Deposited By: Archive Administrator
Deposited On:11 Jan 2009 06:42
Last Modified:08 Nov 2021 22:33

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