Pathogenic mitochondrial DNA mutations are common in the general population

Hannah R Elliott, David C Samuels, James A Eden, Caroline L Relton, Patrick F Chinnery

Research output: Contribution to journalArticle (Academic Journal)peer-review

382 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)254-260
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number2
Publication statusPublished - 8 Aug 2008


  • Genetics, Population
  • DNA Mutational Analysis
  • Humans
  • Models, Statistical
  • DNA, Mitochondrial
  • Mitochondrial Diseases
  • Genotype
  • Haplotypes
  • Fetal Blood
  • Heterozygote
  • Models, Genetic
  • Cohort Studies
  • Mutation
  • Female
  • Prevalence


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