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?5GABAA receptor deficiency causes autism-like behaviors.

ABSTRACT: The prevalence of autism spectrum disorders (ASDs), which affect over 1% of the population, has increased twofold in recent years. Reduced expression of GABAA receptors has been observed in postmortem brain tissue and neuroimaging of individuals with ASDs. We found that deletion of the gene for the ?5 subunit of the GABAA 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 ?5GABAA receptor-anchoring protein radixin, further supporting a ?5GABAA receptor deficiency in ASDs.

SUBMITTER: Zurek AA

PROVIDER: S-EPMC4863752 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

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α5GABAA receptor deficiency causes autism-like behaviors.

Zurek Agnieszka A AA Kemp Stephen W P SW Aga Zeenia Z Walker Susan S Milenkovic Marija M Ramsey Amy J AJ Sibille Etienne E Scherer Stephen W SW Orser Beverley A BA

Annals of clinical and translational neurology 20160419 5

The prevalence of autism spectrum disorders (ASDs), which affect over 1% of the population, has increased twofold in recent years. Reduced expression of GABAA 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 GABAA receptor caused robust autism-like behaviors in mice, including reduced social contacts and vocalizations. Screening of human exome sequencing data from 396 ASD subjects reveal ...[more]

PMID: 27231709

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