Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene

FEBS Lett. 2009 May 19;583(10):1599-604. doi: 10.1016/j.febslet.2009.04.024. Epub 2009 Apr 19.

Abstract

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be caused by mutations in the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4 and CHRNB2. Recently, a point mutation (alpha2-I279N) associated with sleep-related epilepsy has been described in a third nAChR gene, CHRNA2. We demonstrate here that alpha2-I279N can be co-expressed with the major structural subunit CHRNB2. alpha2-I279N causes a marked gain-of-function effect and displays a distinct biopharmacological profile, including markedly reduced inhibition by carbamazepine and increased nicotine sensitivity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Animals
  • Epilepsy, Frontal Lobe / genetics*
  • Epilepsy, Frontal Lobe / metabolism
  • Female
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Oocytes / metabolism
  • Receptors, Nicotinic / genetics*
  • Receptors, Nicotinic / metabolism
  • Xenopus

Substances

  • CHRNA2 protein, human
  • Receptors, Nicotinic