Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome

Cephalalgia. 2009 Jul;29(7):719-28. doi: 10.1111/j.1468-2982.2008.01793.x. Epub 2009 Feb 10.


Mitochondrial dysfunction is a hypothesized component in the multifactorial pathogenesis of migraine without aura (MoA, 'common migraine') and the related condition of cyclic vomiting syndrome (CVS). In this study, the entire mitochondrial genome was sequenced in 20 haplogroup-H CVS patients, a subject group studied because of greater genotypic and phenotypic homogeneity. Sequences were compared against haplogroup-H controls. Polymorphisms of interest were tested in 10 additional CVS subjects and in 112 haplogroup-H adults with MoA. The 16519C-->T polymorphism was found to be highly disease associated: 21/30 CVS subjects [70%, odds ratio (OR) 6.2] and 58/112 migraineurs (52%, OR 3.6) vs. 63/231 controls (27%). A second polymorphism, 3010G-->A, was found to be highly disease associated in those subjects with 16519T: 6/21 CVS subjects (29%, OR 17) and 15/58 migraineurs (26%, OR 15) vs. 1/63 controls (1.6%). Our data suggest that these polymorphisms constitute a substantial proportion of the genetic factor in migraine pathogenesis, and strengthen the hypothesis that there is a component of mitochondrial dysfunction in migraine.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Migraine Disorders / complications
  • Migraine Disorders / genetics*
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Syndrome
  • Vomiting / etiology
  • Vomiting / genetics*


  • DNA, Mitochondrial