Recent findings in headache genetics

Curr Opin Neurol. 2004 Jun;17(3):283-8. doi: 10.1097/00019052-200406000-00008.

Abstract

Purpose of review: The progress in headache genetics, especially migraine genetics, recently jumped ahead with some major discoveries.

Recent findings: Family and epidemiological studies further strengthen the genetic contribution to migraine and two recent observations gave new molecular insights in the disease. Studies on the genetics of familial hemiplegic migraine revealed, in addition to the previously identified familial hemiplegic migraine type 1 gene CACNA1A on chromosome 19, the familial hemiplegic migraine type 2 gene ATP1A2, encoding the alpha2-subunit of sodium/potassium pumps. Recent genome screens in families with migraine identified susceptibility loci on chromosomes 4, 6, 11 and 14.

Summary: The findings in familial hemiplegic migraine confirm that dysfunction in ion transport is a key factor in migraine pathophysiology and might help us in the elucidation of migraine molecular pathways. The identification of several migraine susceptibility loci underline its genetically complex nature.

Publication types

  • Review

MeSH terms

  • Calcium Channels / metabolism
  • Calcium Channels, N-Type
  • Calcium Channels, P-Type
  • Calcium Channels, Q-Type
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 19
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Headache
  • Humans
  • Migraine Disorders / etiology
  • Migraine Disorders / genetics*
  • Migraine with Aura / diagnosis
  • Migraine with Aura / genetics*
  • Migraine with Aura / physiopathology
  • Models, Genetic
  • Mutation
  • Sodium-Potassium-Exchanging ATPase / metabolism

Substances

  • CACNA1A protein, human
  • Calcium Channels
  • Calcium Channels, N-Type
  • Calcium Channels, P-Type
  • Calcium Channels, Q-Type
  • voltage-dependent calcium channel (P-Q type)
  • ATP1A2 protein, human
  • Sodium-Potassium-Exchanging ATPase