Pathogenic mitochondrial DNA mutations are common in the general population.

Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF
Am J Hum Genet. 2008 83 (2): 254-60

PMID: 18674747 · PMCID: PMC2495064 · DOI:10.1016/j.ajhg.2008.07.004

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.

MeSH Terms (15)

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

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