Abstract
Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive interests/behaviors. Advances in human genomics have identified a large number of genetic variations associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the pathogenesis of ASD, many of which involve synaptic dysfunctions, and have investigated novel, mechanism-based therapeutic strategies. This review will try to integrate these three key aspects of ASD research: human genetics, animal models, and potential treatments. Continued efforts in this direction should ultimately reveal core mechanisms that account for a larger fraction of ASD cases and identify neural mechanisms associated with specific ASD symptoms, providing important clues to efficient ASD treatment.
Highlights
TO AUTISM SPECTRUM DISORDER Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by abnormal social interaction and communication, and stereotyped behaviors with restricted interest
A shift in the balance between excitation and inhibition (E-I balance) toward excitation in the mouse medial prefrontal cortex induced by optogenetic stimulation causes sociability impairments (Yizhar et al, 2011). These results suggest that the striatum and mPFC are components of ASD-related neural circuits
IL1RAPL1 regulates the development of inhibitory circuits in the cerebellum, an ASD-related brain region, and disrupts the excitatory and inhibitory balance, as determined by a study using Il1rapl1−/− mice (Gambino et al, 2009). These results suggest that IL1RAPL1 is involved in the regulation of excitatory synaptic development and the balance between excitatory and inhibitory synaptic inputs
Summary
TO AUTISM SPECTRUM DISORDER Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by abnormal social interaction and communication, and stereotyped behaviors with restricted interest. The diagnosis of autism is mainly based on the presence of two major aforementioned symptoms: social-communication deficits, and restricted and repetitive interests/behaviors (Grzadzinski et al, 2013) These symptoms must be shown from early childhood of individuals with ASD. Examples include 3-chambered test to assess sociability and social novelty recognition of rodents, ultrasonic vocalization (USV) test to measure the communication patterns of rodents, T-maze test for restricted interests, and home cage behavior or marble burying assay for repetitive behaviors Through these assays, many genetic and non-genetic animal models of ASD have been characterized and used to identify the etiology of ASD and develop novel treatments (see Tables 3–6 for four different groups of ASD models). There are small but significant differences in gene expression patterns in the cerebral cortex in different species (Zeng et al, 2012), suggesting that the
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