Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder.
Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder.
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DOI：
10.3390/ijms22062811
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发表时间：
2021-03-10
影响因子：
5.6
通讯作者：
Benavides DR
中科院分区：
文献类型：
--
作者：
Joo Y;Benavides DR
自闭症谱系障碍（ASD）是一种遗传性神经发育障碍，与社会互动，沟通和重复行为的障碍有关。虽然潜在的疾病机制仍有待充分阐明，但神经元可塑性和局部翻译控制功能障碍已成为关注的关键点。关键突触蛋白的mRNA翻译受脆性X智力低下蛋白（FMRP）的负调控，FMRP在与ASD相关的最常见的单基因疾病中丢失。大量研究表明，mRNA转运、RNA代谢和突触蛋白的翻译对神经元健康、突触可塑性以及学习和记忆都很重要。因此，这些机制的功能障碍可能有助于在自闭症谱系障碍（ASD）个体中观察到的异常脑功能。在这篇综述中，我们总结了最近的研究，局部翻译和mRNA加工的突触蛋白，并讨论如何扰动这些过程可能与ASD的病理生理。
Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition associated with impairments in social interaction, communication and repetitive behaviors. While the underlying disease mechanisms remain to be fully elucidated, dysfunction of neuronal plasticity and local translation control have emerged as key points of interest. Translation of mRNAs for critical synaptic proteins are negatively regulated by Fragile X mental retardation protein (FMRP), which is lost in the most common single-gene disorder associated with ASD. Numerous studies have shown that mRNA transport, RNA metabolism, and translation of synaptic proteins are important for neuronal health, synaptic plasticity, and learning and memory. Accordingly, dysfunction of these mechanisms may contribute to the abnormal brain function observed in individuals with autism spectrum disorder (ASD). In this review, we summarize recent studies about local translation and mRNA processing of synaptic proteins and discuss how perturbations of these processes may be related to the pathophysiology of ASD.
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