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Genetic aspects of autism spectrum disorders: insights from animal models
Autism spectrum disorders (ASDs) are a complex neurodevelopmental disorder that display a triad of core behavioral deficits including restricted interests, often accompanied by repetitive behavior, deficits in language and communication, and an inability to engage in reciprocal social interactions....
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932417/ https://www.ncbi.nlm.nih.gov/pubmed/24605088 http://dx.doi.org/10.3389/fncel.2014.00058 |
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author | Banerjee, Swati Riordan, Maeveen Bhat, Manzoor A. |
author_facet | Banerjee, Swati Riordan, Maeveen Bhat, Manzoor A. |
author_sort | Banerjee, Swati |
collection | PubMed |
description | Autism spectrum disorders (ASDs) are a complex neurodevelopmental disorder that display a triad of core behavioral deficits including restricted interests, often accompanied by repetitive behavior, deficits in language and communication, and an inability to engage in reciprocal social interactions. ASD is among the most heritable disorders but is not a simple disorder with a singular pathology and has a rather complex etiology. It is interesting to note that perturbations in synaptic growth, development, and stability underlie a variety of neuropsychiatric disorders, including ASD, schizophrenia, epilepsy, and intellectual disability. Biological characterization of an increasing repertoire of synaptic mutants in various model organisms indicates synaptic dysfunction as causal in the pathophysiology of ASD. Our understanding of the genes and genetic pathways that contribute toward the formation, stabilization, and maintenance of functional synapses coupled with an in-depth phenotypic analysis of the cellular and behavioral characteristics is therefore essential to unraveling the pathogenesis of these disorders. In this review, we discuss the genetic aspects of ASD emphasizing on the well conserved set of genes and genetic pathways implicated in this disorder, many of which contribute to synapse assembly and maintenance across species. We also review how fundamental research using animal models is providing key insights into the various facets of human ASD. |
format | Online Article Text |
id | pubmed-3932417 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-39324172014-03-06 Genetic aspects of autism spectrum disorders: insights from animal models Banerjee, Swati Riordan, Maeveen Bhat, Manzoor A. Front Cell Neurosci Neuroscience Autism spectrum disorders (ASDs) are a complex neurodevelopmental disorder that display a triad of core behavioral deficits including restricted interests, often accompanied by repetitive behavior, deficits in language and communication, and an inability to engage in reciprocal social interactions. ASD is among the most heritable disorders but is not a simple disorder with a singular pathology and has a rather complex etiology. It is interesting to note that perturbations in synaptic growth, development, and stability underlie a variety of neuropsychiatric disorders, including ASD, schizophrenia, epilepsy, and intellectual disability. Biological characterization of an increasing repertoire of synaptic mutants in various model organisms indicates synaptic dysfunction as causal in the pathophysiology of ASD. Our understanding of the genes and genetic pathways that contribute toward the formation, stabilization, and maintenance of functional synapses coupled with an in-depth phenotypic analysis of the cellular and behavioral characteristics is therefore essential to unraveling the pathogenesis of these disorders. In this review, we discuss the genetic aspects of ASD emphasizing on the well conserved set of genes and genetic pathways implicated in this disorder, many of which contribute to synapse assembly and maintenance across species. We also review how fundamental research using animal models is providing key insights into the various facets of human ASD. Frontiers Media S.A. 2014-02-24 /pmc/articles/PMC3932417/ /pubmed/24605088 http://dx.doi.org/10.3389/fncel.2014.00058 Text en Copyright © 2014 Banerjee, Riordan and Bhat. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neuroscience Banerjee, Swati Riordan, Maeveen Bhat, Manzoor A. Genetic aspects of autism spectrum disorders: insights from animal models |
title | Genetic aspects of autism spectrum disorders: insights from animal models |
title_full | Genetic aspects of autism spectrum disorders: insights from animal models |
title_fullStr | Genetic aspects of autism spectrum disorders: insights from animal models |
title_full_unstemmed | Genetic aspects of autism spectrum disorders: insights from animal models |
title_short | Genetic aspects of autism spectrum disorders: insights from animal models |
title_sort | genetic aspects of autism spectrum disorders: insights from animal models |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932417/ https://www.ncbi.nlm.nih.gov/pubmed/24605088 http://dx.doi.org/10.3389/fncel.2014.00058 |
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