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Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

Lookup NU author(s): Dr Hannah Elliott, Dr David Samuels, James Eden, Professor Caroline Relton, Professor Patrick Chinnery

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Abstract

Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known. We determined the frequency of ten mitochondrial point mutations in 3168 neonatal-cord-blood samples from sequential live births, analyzing matched maternal-blood samples to estimate the de novo mutation rate. mtDNA mutations were detected in 15 offspring (0.54%, 95% CI = 0.30-0.89%). Of these live births, 0.00107% (95% CI = 0.00087-0.0127) harbored a mutation not detected in the mother's blood, providing an estimate of the de novo mutation rate. The most common mutation was m.3243A→G. m.14484T→C was only found on sub-branches of mtDNA haplogroup J. In conclusion, at least one in 200 healthy humans harbors a pathogenic mtDNA mutation that potentially causes disease in the offspring of female carriers. The exclusive detection of m.14484T→C on haplogroup J implicates the background mtDNA haplotype in mutagenesis. These findings emphasize the importance of developing new approaches to prevent transmission. © 2008 The American Society of Human Genetics.

Publication metadata

Author(s): Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2008

Volume: 83

Issue: 2

Pages: 254-260

Date deposited: 09/06/2010

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/j.ajhg.2008.07.004

DOI: 10.1016/j.ajhg.2008.07.004

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