Nash Family Department of Neuroscience, New York, NY, USA; Department of Psychiatry, New York, NY, USA; Friedman Brain Institute, New York, NY, USA; Seaver Autism Center for Research and Treatment, New York, NY, USA.
Department of Psychiatry, New York, NY, USA; Seaver Autism Center for Research and Treatment, New York, NY, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Curr Opin Neurobiol. 2019 Dec;59:102-111. doi: 10.1016/j.conb.2019.04.011. Epub 2019 Jun 18.
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by social deficits and restrictive and/or repetitive behaviors. The breadth of ASD symptoms is paralleled by the multiplicity of genes that have been implicated in its etiology. Initial findings revealed numerous ASD risk genes that contribute to synaptic function. More recently, genomic and gene expression studies point to altered chromatin function and impaired transcriptional control as additional risk factors for ASD. The consequences of impaired transcriptional alterations in ASD involve consistent changes in synaptic gene expression and cortical neuron specification during brain development. The multiplicity of genetic and environmental factors associated with ASD risk and their convergence onto common molecular pathways in neurons point to ASD as a disorder of gene regulatory networks.
自闭症谱系障碍(ASD)是一种常见的神经发育障碍,其特征是社交缺陷和限制性行为和/或重复性行为。ASD 的症状范围广泛,与之相关的基因也多种多样,这些基因都与 ASD 的发病机制有关。最初的研究结果揭示了许多与突触功能有关的 ASD 风险基因。最近,基因组和基因表达研究表明,染色质功能改变和转录控制受损是 ASD 的另外一些风险因素。ASD 中转录改变的后果包括在大脑发育过程中,突触基因表达和皮质神经元特化的持续变化。与 ASD 风险相关的遗传和环境因素的多样性及其在神经元中共同的分子途径上的汇聚,表明 ASD 是一种基因调控网络紊乱。