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Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation

Lookup NU author(s): Professor Caroline Relton, Gordon Taylor, Professor Patrick Chinnery, Emeritus Professor Doug Turnbull


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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 × 10-5 mutations/nucleotide, and for the controls it was 8.65 × 10-5 mutations/nucleotide, with a procedural error rate of 2.65 × 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. © 2006 by Radiation Research Society.

Publication metadata

Author(s): Wilding CS, Cadwell K, Tawn EJ, Relton CL, Taylor GA, Chinnery PF, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Radiation Research

Year: 2006

Volume: 165

Issue: 2

Pages: 202-207

ISSN (print): 0033-7587

ISSN (electronic): 1938-5404

Publisher: Radiation Research Society


DOI: 10.1667/RR3494.1

PubMed id: 16435918


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Funder referenceFunder name
074454Wellcome Trust