Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis

Hum Mol Genet. 2009 Mar 15;18(6):1075-88. doi: 10.1093/hmg/ddp004. Epub 2009 Jan 18.

Abstract

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a focal form of epilepsy characterized by seizures occurring during non-REM sleep. We have developed and characterized the first mouse model for ADNFLE type III carrying the V287L mutation of the beta2 subunit of neuronal nicotinic receptor. Mice expressing mutant receptors show a spontaneous epileptic phenotype by electroencephalography with very frequent interictal spikes and seizures. Expression of the mutant beta2 subunit is driven by a neuronal-specific tetracycline-controlled promoter, which allows planned silencing of transgene expression in a reversible fashion and tracking the involvement of mutant receptor in crucial phases of epileptogenesis. We found that restricted silencing during development is sufficient to prevent the occurrence of epileptic seizures in adulthood. Our data indicate that mutant nicotinic receptors are responsible for abnormal formation of neuronal circuits and/or long-lasting alteration of network assembly in the developing brain, thus leading to epilepsy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Blotting, Southern
  • Brain / pathology
  • Brain / physiopathology
  • Disease Models, Animal
  • Electroencephalography
  • Embryo, Mammalian / metabolism
  • Epilepsy, Frontal Lobe / embryology*
  • Epilepsy, Frontal Lobe / genetics*
  • Epilepsy, Frontal Lobe / physiopathology
  • Gene Silencing
  • Genome / genetics
  • Mice
  • Mutant Proteins / genetics*
  • Mutant Proteins / metabolism
  • Mutation / genetics*
  • Phenotype
  • Receptors, Nicotinic / genetics*
  • Receptors, Nicotinic / metabolism
  • Transgenes

Substances

  • Mutant Proteins
  • Receptors, Nicotinic
  • nicotinic receptor beta2