Huber Kimberly M, Klann Eric, Costa-Mattioli Mauro, Zukin R Suzanne
Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas 75390.
Center for Neural Science, New York University, New York, New York 10003.
J Neurosci. 2015 Oct 14;35(41):13836-42. doi: 10.1523/JNEUROSCI.2656-15.2015.
The mammalian target of rapamycin (mTOR) is a central regulator of a diverse array of cellular processes, including cell growth, proliferation, autophagy, translation, and actin polymerization. Components of the mTOR cascade are present at synapses and influence synaptic plasticity and spine morphogenesis. A prevailing view is that the study of mTOR and its role in autism spectrum disorders (ASDs) will elucidate the molecular mechanisms by which mTOR regulates neuronal function under physiological and pathological conditions. Although many ASDs arise as a result of mutations in genes with multiple molecular functions, they appear to converge on common biological pathways that give rise to autism-relevant behaviors. Dysregulation of mTOR signaling has been identified as a phenotypic feature common to fragile X syndrome, tuberous sclerosis complex 1 and 2, neurofibromatosis 1, phosphatase and tensin homolog, and potentially Rett syndrome. Below are a summary of topics covered in a symposium that presents dysregulation of mTOR as a unifying theme in a subset of ASDs.
雷帕霉素哺乳动物靶点（mTOR）是多种细胞过程的核心调节因子，包括细胞生长、增殖、自噬、翻译和肌动蛋白聚合。mTOR级联反应的组成部分存在于突触中，并影响突触可塑性和树突棘形态发生。一种普遍的观点是，对mTOR及其在自闭症谱系障碍（ASD）中的作用的研究将阐明mTOR在生理和病理条件下调节神经元功能的分子机制。尽管许多ASD是由具有多种分子功能的基因突变引起的，但它们似乎汇聚在导致自闭症相关行为的共同生物学途径上。mTOR信号失调已被确定为脆性X综合征、结节性硬化症复合体1和2、神经纤维瘤病1、磷酸酶和张力蛋白同源物以及可能的雷特综合征共有的表型特征。以下是一个研讨会涵盖主题的总结，该研讨会将mTOR失调作为一部分ASD的统一主题。
