Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy

Marcela Lipovsek, Paola Plazas, Jessica Savino, Alwin Klaassen, Jim Boulter, Ana Belén Elgoyhen, Eleonora Katz

Research output: Contribution to journalArticle

Abstract

We characterized, by electrophysiological methods, two biophysical properties of murine recombinant α4β2 nicotinic acetylcholine receptors (nAChR) bearing a mutation (α4:+L264α4:β2 or α4:S252Fα4:β2) linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Sensitivity to acetylcholine (ACh) was increased by the S252F substitution expressed in heterozygosis (α4:S252Fα4:β2) but was markedly reduced when this mutation was expressed in homozygosis (S252Fα4:β2). ACh sensitivity was not altered by the +L264 insertion. Moreover, receptor desensitization was significantly increased by both mutations expressed in heterozygosis. These results are in general agreement to those of rat and human recombinant receptors bearing the same mutations, thus contributing to validate the use of knock-in mice harboring ADNFLE mutations as models to study this pathology.

Original languageEnglish (US)
Pages (from-to)165-169
Number of pages5
JournalNeuroscience Letters
Volume434
Issue number2
DOIs
StatePublished - Mar 28 2008
Externally publishedYes

Fingerprint

Partial Epilepsy
Nicotinic Receptors
Mutation
Acetylcholine
Pathology

Keywords

  • ACh
  • Desensitization
  • Epilepsy
  • Ion channels
  • Nicotinic receptors

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Lipovsek, M., Plazas, P., Savino, J., Klaassen, A., Boulter, J., Elgoyhen, A. B., & Katz, E. (2008). Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy. Neuroscience Letters, 434(2), 165-169. https://doi.org/10.1016/j.neulet.2007.12.061

Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy. / Lipovsek, Marcela; Plazas, Paola; Savino, Jessica; Klaassen, Alwin; Boulter, Jim; Elgoyhen, Ana Belén; Katz, Eleonora.

In: Neuroscience Letters, Vol. 434, No. 2, 28.03.2008, p. 165-169.

Research output: Contribution to journalArticle

Lipovsek, M, Plazas, P, Savino, J, Klaassen, A, Boulter, J, Elgoyhen, AB & Katz, E 2008, 'Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy', Neuroscience Letters, vol. 434, no. 2, pp. 165-169. https://doi.org/10.1016/j.neulet.2007.12.061
Lipovsek M, Plazas P, Savino J, Klaassen A, Boulter J, Elgoyhen AB et al. Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy. Neuroscience Letters. 2008 Mar 28;434(2):165-169. https://doi.org/10.1016/j.neulet.2007.12.061
Lipovsek, Marcela ; Plazas, Paola ; Savino, Jessica ; Klaassen, Alwin ; Boulter, Jim ; Elgoyhen, Ana Belén ; Katz, Eleonora. / Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy. In: Neuroscience Letters. 2008 ; Vol. 434, No. 2. pp. 165-169.
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