Population prevalence of the MELAS A3243G mutation

Mitochondrion. 2007 May;7(3):230-3. doi: 10.1016/j.mito.2006.12.004. Epub 2007 Jan 8.


We aimed to establish the population prevalence of the MELAS 3243A>G mtDNA mutation in a large Caucasian-based population (n=2954; 99% Caucasian, 57% women and mean age of 66.4 years). All participants underwent comprehensive clinical evaluation including audiologic testing. We detected the 3243A>G mutation in seven subjects using standard polymerase chain reaction/restriction fragment length polymorphism methods, establishing a population prevalence of 236/100000 (0.24%; 95% CI 0.10-0.49%); much higher than previously reported. All had mild to moderate hearing loss. Our findings indicate that subjects with the 3243A>G mtDNA mutation could be markedly under-recognised in the community.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Australia / epidemiology
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • MELAS Syndrome / epidemiology
  • MELAS Syndrome / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Polymorphism, Single Nucleotide*
  • Prevalence


  • DNA, Mitochondrial