Prevalence of migraine in persons with the 3243A>G mutation in mitochondrial DNA

Eur J Neurol. 2016 Jan;23(1):175-81. doi: 10.1111/ene.12832. Epub 2015 Oct 5.


Background and purpose: Over the last three decades mitochondrial dysfunction has been postulated to be a potential mechanism in migraine pathogenesis. The lifetime prevalence of migraine in persons carrying the 3243A>G mutation in mitochondrial DNA was investigated.

Methods: In this cross-sectional study, 57 mDNA 3243A>G mutation carriers between May 2012 and October 2014 were included. As a control group, a population-based cohort from our epidemiological studies on migraine in Danes was used. History of headache and migraine was obtained by telephone interview, based on a validated semi-structured questionnaire, performed by trained physicians.

Results: The prevalence of migraine is significantly higher in persons carrying the 3243A>G mutation than in controls (58% vs. 18%; P < 0.001). This applies for both subforms of migraine, migraine without aura (47% vs. 12%; P < 0.001) and migraine with aura (18% vs. 6%; P < 0.001), and in females (58% vs. 24%; P < 0.001) and males (58% vs. 12%; P < 0.001) for any migraine.

Conclusions: A high prevalence of migraine in persons with the mDNA 3243A>G mutation was found. This finding suggests a clinical association between a monogenetically inherited disorder of mitochondrial dysfunction and susceptibility to migraine. Mitochondrial DNA aberrations may contribute to the pathogenesis of migraine.

Keywords: headache; mDNA 3243A>G; migraine; mitochondrial dysfunction; mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Cross-Sectional Studies
  • DNA, Mitochondrial / genetics*
  • Denmark / epidemiology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Migraine Disorders / epidemiology*
  • Migraine Disorders / genetics*
  • Mutation
  • Prevalence
  • Young Adult


  • DNA, Mitochondrial