α5GABA(A) receptor deficiency causes autism‐like behaviors

The prevalence of autism spectrum disorders (ASDs), which affect over 1% of the population, has increased twofold in recent years. Reduced expression of GABA(A) receptors has been observed in postmortem brain tissue and neuroimaging of individuals with ASDs. We found that deletion of the gene for th...

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Autores principales: Zurek, Agnieszka A., Kemp, Stephen W. P., Aga, Zeenia, Walker, Susan, Milenkovic, Marija, Ramsey, Amy J., Sibille, Etienne, Scherer, Stephen W., Orser, Beverley A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863752/
https://www.ncbi.nlm.nih.gov/pubmed/27231709
http://dx.doi.org/10.1002/acn3.303
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author Zurek, Agnieszka A.
Kemp, Stephen W. P.
Aga, Zeenia
Walker, Susan
Milenkovic, Marija
Ramsey, Amy J.
Sibille, Etienne
Scherer, Stephen W.
Orser, Beverley A.
author_facet Zurek, Agnieszka A.
Kemp, Stephen W. P.
Aga, Zeenia
Walker, Susan
Milenkovic, Marija
Ramsey, Amy J.
Sibille, Etienne
Scherer, Stephen W.
Orser, Beverley A.
author_sort Zurek, Agnieszka A.
collection PubMed
description The prevalence of autism spectrum disorders (ASDs), which affect over 1% of the population, has increased twofold in recent years. Reduced expression of GABA(A) receptors has been observed in postmortem brain tissue and neuroimaging of individuals with ASDs. We found that deletion of the gene for the α5 subunit of the GABA(A) receptor caused robust autism‐like behaviors in mice, including reduced social contacts and vocalizations. Screening of human exome sequencing data from 396 ASD subjects revealed potential missense mutations in GABRA5 and in RDX, the gene for the α5GABA(A) receptor‐anchoring protein radixin, further supporting a α5GABA(A) receptor deficiency in ASDs.
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spelling pubmed-48637522016-05-26 α5GABA(A) receptor deficiency causes autism‐like behaviors Zurek, Agnieszka A. Kemp, Stephen W. P. Aga, Zeenia Walker, Susan Milenkovic, Marija Ramsey, Amy J. Sibille, Etienne Scherer, Stephen W. Orser, Beverley A. Ann Clin Transl Neurol Brief Communications The prevalence of autism spectrum disorders (ASDs), which affect over 1% of the population, has increased twofold in recent years. Reduced expression of GABA(A) receptors has been observed in postmortem brain tissue and neuroimaging of individuals with ASDs. We found that deletion of the gene for the α5 subunit of the GABA(A) receptor caused robust autism‐like behaviors in mice, including reduced social contacts and vocalizations. Screening of human exome sequencing data from 396 ASD subjects revealed potential missense mutations in GABRA5 and in RDX, the gene for the α5GABA(A) receptor‐anchoring protein radixin, further supporting a α5GABA(A) receptor deficiency in ASDs. John Wiley and Sons Inc. 2016-04-19 /pmc/articles/PMC4863752/ /pubmed/27231709 http://dx.doi.org/10.1002/acn3.303 Text en © 2016 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Zurek, Agnieszka A.
Kemp, Stephen W. P.
Aga, Zeenia
Walker, Susan
Milenkovic, Marija
Ramsey, Amy J.
Sibille, Etienne
Scherer, Stephen W.
Orser, Beverley A.
α5GABA(A) receptor deficiency causes autism‐like behaviors
title α5GABA(A) receptor deficiency causes autism‐like behaviors
title_full α5GABA(A) receptor deficiency causes autism‐like behaviors
title_fullStr α5GABA(A) receptor deficiency causes autism‐like behaviors
title_full_unstemmed α5GABA(A) receptor deficiency causes autism‐like behaviors
title_short α5GABA(A) receptor deficiency causes autism‐like behaviors
title_sort α5gaba(a) receptor deficiency causes autism‐like behaviors
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863752/
https://www.ncbi.nlm.nih.gov/pubmed/27231709
http://dx.doi.org/10.1002/acn3.303
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