Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy
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 (...
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paper:paper_03043940_v434_n2_p165_Lipovsek2023-06-08T15:29:31Z Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy Lipovsek, María Marcela Plazas, Paola Viviana Katz, Eleonora ACh Desensitization Epilepsy Ion channels Nicotinic receptors acetylcholine alpha4beta2 nicotinic receptor nicotinic receptor unclassified drug animal cell article autosomal dominant disorder controlled study electrophysiology focal epilepsy frontal lobe epilepsy gene insertion gene mutation heterozygosity homozygosity nonhuman nucleotide sequence priority journal receptor down regulation Xenopus Acetylcholine Animals Cholinergic Agents Epilepsies, Partial Genes, Dominant Heterozygote Homozygote Ion Channel Gating Mice Models, Chemical Mutagenesis Oocytes Patch-Clamp Techniques Receptors, Nicotinic Xenopus 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. © 2008 Elsevier Ireland Ltd. All rights reserved. Fil:Lipovsek, M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Plazas, P. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Katz, E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2008 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03043940_v434_n2_p165_Lipovsek http://hdl.handle.net/20.500.12110/paper_03043940_v434_n2_p165_Lipovsek |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
ACh Desensitization Epilepsy Ion channels Nicotinic receptors acetylcholine alpha4beta2 nicotinic receptor nicotinic receptor unclassified drug animal cell article autosomal dominant disorder controlled study electrophysiology focal epilepsy frontal lobe epilepsy gene insertion gene mutation heterozygosity homozygosity nonhuman nucleotide sequence priority journal receptor down regulation Xenopus Acetylcholine Animals Cholinergic Agents Epilepsies, Partial Genes, Dominant Heterozygote Homozygote Ion Channel Gating Mice Models, Chemical Mutagenesis Oocytes Patch-Clamp Techniques Receptors, Nicotinic Xenopus |
| spellingShingle |
ACh Desensitization Epilepsy Ion channels Nicotinic receptors acetylcholine alpha4beta2 nicotinic receptor nicotinic receptor unclassified drug animal cell article autosomal dominant disorder controlled study electrophysiology focal epilepsy frontal lobe epilepsy gene insertion gene mutation heterozygosity homozygosity nonhuman nucleotide sequence priority journal receptor down regulation Xenopus Acetylcholine Animals Cholinergic Agents Epilepsies, Partial Genes, Dominant Heterozygote Homozygote Ion Channel Gating Mice Models, Chemical Mutagenesis Oocytes Patch-Clamp Techniques Receptors, Nicotinic Xenopus Lipovsek, María Marcela Plazas, Paola Viviana Katz, Eleonora Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy |
| topic_facet |
ACh Desensitization Epilepsy Ion channels Nicotinic receptors acetylcholine alpha4beta2 nicotinic receptor nicotinic receptor unclassified drug animal cell article autosomal dominant disorder controlled study electrophysiology focal epilepsy frontal lobe epilepsy gene insertion gene mutation heterozygosity homozygosity nonhuman nucleotide sequence priority journal receptor down regulation Xenopus Acetylcholine Animals Cholinergic Agents Epilepsies, Partial Genes, Dominant Heterozygote Homozygote Ion Channel Gating Mice Models, Chemical Mutagenesis Oocytes Patch-Clamp Techniques Receptors, Nicotinic Xenopus |
| description |
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. © 2008 Elsevier Ireland Ltd. All rights reserved. |
| author |
Lipovsek, María Marcela Plazas, Paola Viviana Katz, Eleonora |
| author_facet |
Lipovsek, María Marcela Plazas, Paola Viviana Katz, Eleonora |
| author_sort |
Lipovsek, María Marcela |
| title |
Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy |
| title_short |
Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy |
| title_full |
Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy |
| title_fullStr |
Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy |
| title_full_unstemmed |
Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy |
| title_sort |
properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy |
| publishDate |
2008 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03043940_v434_n2_p165_Lipovsek http://hdl.handle.net/20.500.12110/paper_03043940_v434_n2_p165_Lipovsek |
| work_keys_str_mv |
AT lipovsekmariamarcela propertiesofmutatedmurinea4b2nicotinicreceptorslinkedtopartialepilepsy AT plazaspaolaviviana propertiesofmutatedmurinea4b2nicotinicreceptorslinkedtopartialepilepsy AT katzeleonora propertiesofmutatedmurinea4b2nicotinicreceptorslinkedtopartialepilepsy |
| _version_ |
1768542037202698240 |