Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation

Craig S Wilding, Kevin Cadwell, E Janet Tawn, Caroline L Relton, Geoffrey A Taylor, Patrick F Chinnery, Douglass M Turnbull

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

18 Citations (Scopus)


Mutations in a 443-bp amplicon of the hypervariable region HVR1 of the D-loop of mitochondrial DNA (mtDNA) were quantified in DNA extracted from peripheral blood samples of 10 retired radiation workers who had accumulated external radiation doses of >0.9 Sv over the course of their working life and were compared to the levels of mutations in 10 control individuals matched for age and smoking status. The mutation rate in the 10 exposed individuals was 9.92 x 10(-5) mutations/ nucleotide, and for the controls it was 8.65 x 10(-5) mutations/ nucleotide, with a procedural error rate of 2.65 x 10(-5) mutations/nucleotide. No increase in mtDNA mutations due to radiation exposure was detectable (P = 0.640). In contrast, chromosomal translocation frequencies, a validated radiobiological technique for retrospective dosimetric purposes, were significantly elevated in the exposed individuals. This suggests that mutations identified through sequencing of mtDNA in peripheral blood lymphocytes do not represent a promising genetic marker of DNA damage after low-dose or low-dose-rate exposures to ionizing radiation. There was an increase in singleton mutations above that attributable to procedural error in both exposed and control groups that is likely to reflect age-related somatic mutation.

Original languageEnglish
Pages (from-to)202-7
Number of pages6
JournalRadiation Research
Issue number2
Publication statusPublished - Feb 2006


  • Aged
  • Aged, 80 and over
  • DNA Mutational Analysis
  • DNA, Mitochondrial
  • Great Britain
  • Humans
  • Male
  • Nuclear Energy
  • Occupational Exposure
  • Power Plants
  • Radiation, Ionizing
  • Retrospective Studies
  • Risk Assessment
  • Risk Factors
  • Sequence Alignment

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