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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Detalles Bibliográficos
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
Descripción
Sumario: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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