[From gene to disease; familial hemiplegic migraine as a result of mutations in a sodium-potassium pump gene]

Ned Tijdschr Geneeskd. 2004 Sep 25;148(39):1919-20.
[Article in Dutch]

Abstract

Familial hemiplegic migraine (FHM) is a rare, autosomal dominant subtype of migraine, associated in half of the families with mutations in the CACNA1A gene located on chromosome 19p13, which encodes the Cav2.1-subunit of brain-specific P/Q-type calcium channels. Recently, mutations in a second gene, ATP1A2 on chromosome 1q23, which encodes a sodium-potassium exchange pump subunit, have been identified. The first functional studies indicate that A TP1A2 FHM mutations result in a loss of function of the pump, leading to an increase in extracellular potassium. This is known to evoke cortical spreading depression, the underlying mechanism of migraine aura.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Calcium Channels / genetics*
  • Calcium Channels, N-Type
  • Calcium Channels, P-Type
  • Calcium Channels, Q-Type
  • Chromosomes, Human, Pair 19*
  • Genetic Predisposition to Disease
  • Humans
  • Migraine with Aura / genetics*
  • Mutation
  • Sodium-Potassium-Exchanging ATPase / genetics*

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