A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

Neuron. 2004 Mar 4;41(5):701-10. doi: 10.1016/s0896-6273(04)00085-6.

Abstract

Migraine is a common, disabling, multifactorial, episodic neurovascular disorder of unknown etiology. Familial hemiplegic migraine type 1 (FHM-1) is a Mendelian subtype of migraine with aura that is caused by missense mutations in the CACNA1A gene that encodes the alpha(1) subunit of neuronal Ca(v)2.1 Ca(2+) channels. We generated a knockin mouse model carrying the human pure FHM-1 R192Q mutation and found multiple gain-of-function effects. These include increased Ca(v)2.1 current density in cerebellar neurons, enhanced neurotransmission at the neuromuscular junction, and, in the intact animal, a reduced threshold and increased velocity of cortical spreading depression (CSD; the likely mechanism for the migraine aura). Our data show that the increased susceptibility for CSD and aura in migraine may be due to cortical hyperexcitability. The R192Q FHM-1 mouse is a promising animal model to study migraine mechanisms and treatments.

Publication types

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

MeSH terms

  • Animals
  • Calcium Channels / biosynthesis
  • Calcium Channels / genetics*
  • Calcium Channels, N-Type
  • Calcium Channels, P-Type
  • Calcium Channels, Q-Type
  • Cells, Cultured
  • Cortical Spreading Depression / genetics*
  • Disease Models, Animal*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Mice
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Migraine with Aura / genetics*
  • Migraine with Aura / metabolism
  • Motor Endplate / genetics
  • Motor Endplate / metabolism
  • Mutation
  • Recombination, Genetic*

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)