α5GABAA receptor deficiency causes autism-like behaviors

被引：36
|
作者：
Zurek, Agnieszka A. [1 ]
Kemp, Stephen W. P. [1 ]
Aga, Zeenia [1 ]
Walker, Susan [2 ,3 ]
Milenkovic, Marija [4 ]
Ramsey, Amy J. [1 ,4 ]
Sibille, Etienne [4 ,5 ,6 ]
Scherer, Stephen W. [2 ,3 ,7 ,8 ]
Orser, Beverley A. [1 ,9 ,10 ]
机构：
[1] Univ Toronto, Dept Physiol, 1 Kings Coll Circle,Rm 3318, Toronto, ON M5S 1A8, Canada
[2] Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada
[3] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada
[4] Univ Toronto, Dept Pharmacol & Toxicol, Toronto, ON, Canada
[5] CAMH, Campbell Family Mental Hlth Res Inst, Toronto, ON, Canada
[6] Univ Toronto, Dept Psychiat, Toronto, ON, Canada
[7] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
[8] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada
[9] Univ Toronto, Dept Anesthesia, Toronto, ON, Canada
[10] Sunnybrook Hlth Sci Ctr, Toronto, ON, Canada
来源：
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2016年 / 3卷 / 05期
关键词：
SPECTRUM DISORDER; MOUSE MODELS; MEMORY; EXCITATION/INHIBITION; VARIANTS; SUBUNIT; MICE; SETS;
D O I：
10.1002/acn3.303
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：392 / 398
页数：7
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