Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by disturbances in interpersonal relationships and behavior. Although the prevalence of autism is high, effective treatments have not yet been identified. Recently, genome-wide association studies have identified many mutations or variations associated with ASD risk on many chromosome loci and genes. Identification of the biological roles of these mutations or variations is necessary to identify the mechanisms underlying ASD pathogenesis and to develop clinical treatments. At present, mice harboring genetic modifications of ASD-associated gene candidates are the best animal models to analyze hereditary factors involved in autism. In this report, the biological significance of ASD-associated genes is discussed by examining the phenotypes of mouse models with ASD-associated mutations or variations in mouse homologs, with a focus on mice harboring genetic modifications of the Caps2/Cadps2 (Ca2+-dependent activator protein for secretion 2) gene.
Highlights
Autism is a neurodevelopmental disorder that occurs more frequently among male than female individuals, with a male to female ratio of 4:1, and is usually diagnosed by 3 years of age.It is characterized by qualitative impairments in social interactions, verbal and non-verbal communication skills, limited interest and repetitive, stereotyped behavior [1,2]
Before the generation of CAPS2-dex3 model mice, it was assumed that localized brain-derived neurotrophic factor (BDNF) secretion from axons and synaptic terminals was not promoted by CAPS2-dex3, and thereby affected correct development of synapses and neural circuits
Multiple factors originating from genetics, epigenetics, and the environment are associated with the onset and risk of Autism spectrum disorder (ASD), and thought to be related to variations in ASD symptoms
Summary
Autism is a neurodevelopmental disorder that occurs more frequently among male than female individuals, with a male to female ratio of 4:1, and is usually diagnosed by 3 years of age. It is characterized by qualitative impairments in social interactions, verbal and non-verbal communication skills, limited interest and repetitive, stereotyped behavior [1,2]. Within DSM-5, diagnoses classified as autism, Asperger syndrome, PDD-NOS, and childhood disintegrative disorder, are unified and generalized as ASD. It is necessary to conduct basic research on heredity and environmental factors by developing animal models in which ASD-associated genes have been modified
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