alpha 5GABA(A) receptor deficiency causes autism-like behaviors

作者：Zurek Agnieszka A; Kemp Stephen W P; Aga Zeenia; Walker Susan; Milenkovic Marija; Ramsey Amy J; Sibille Etienne; Scherer Stephen W; Orser Beverley A^*

来源：Annals of Clinical and Translational Neurology, 2016, 3(5): 392-398.

DOI：10.1002/acn3.303

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 alpha 5 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 alpha 5GABA(A) receptoranchoring protein radixin, further supporting a alpha 5GABA(A) receptor deficiency in ASDs.

• 出版日期2016-5