Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA; Graduate Program in Neuroscience, University of Washington, Seattle, WA, USA.
Trends Neurosci. 2020 Apr;43(4):227-241. doi: 10.1016/j.tins.2020.01.009. Epub 2020 Feb 22.
Genes that are mutated in Autism Spectrum Disorders (ASD) can be classified broadly as either synaptic or developmental. But what if this is a false distinction? A recent spate of publications has provided evidence for developmental mechanisms that rely on neural activity for proper cortical development. Conversely, a growing body of evidence indicates a role for developmental mechanisms, particularly chromatin remodeling, during learning or in response to neural activity. Here, we review these recent publications and propose a model in which genes that confer ASD risk operate in signal transduction networks critical for both cortical development and synaptic homeostasis.
在自闭症谱系障碍（ASD）中发生突变的基因可以大致分为突触或发育相关。但如果这是一种错误的区分呢？最近的一系列出版物提供了证据，证明了依赖神经活动的发育机制对于皮质的正常发育是必要的。相反，越来越多的证据表明，发育机制，特别是染色质重塑，在学习或对神经活动的反应中发挥作用。在这里，我们回顾这些最近的出版物，并提出一个模型，即在自闭症风险相关的基因在信号转导网络中起作用，该网络对皮质发育和突触稳态都至关重要。
