自闭症谱系障碍的关键突触病理学:遗传机制与最新进展。

IF 2.5 4区 医学 Q3 NEUROSCIENCES
Yuan Zhang, Rui Tang, Zhi-Min Hu, Xi-Hao Wang, Xia Gao, Tao Wang, Ming-Xi Tang
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引用次数: 0

摘要

自闭症谱系障碍(ASD)是一种神经发育障碍,其特征是社交互动和语言沟通能力受损,并伴有行为或兴趣模式受限和重复的症状。在过去的 30 年中,ASD 的发病率在全球大部分地区都有所上升。虽然 ASD 的发病机制尚未完全明了,但它已与 1000 多个基因或基因组位点相关联,这表明了相关遗传机制的重要性和复杂性。本综述重点关注 ASD 的突触病理学,尤其是涉及突触结构和功能的基因变异。这些基因包括 SHANK、NLGN、NRXN、FMR1 和 MECP2,以及 CHD8、CHD2 和 SYNGAP1 等其他可能成为 ASD 发病机制核心要素的潜在新基因。在此,我们总结了几种病理途径,以支持由基因突变引起的突触病理学可能是 ASD 致病基础的假设。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Key Synaptic Pathology in Autism Spectrum Disorder: Genetic Mechanisms and Recent Advances.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions and verbal communication, accompanied by symptoms of restricted and repetitive patterns of behavior or interest. Over the past 30 years, the morbidity of ASD has increased in most areas of the world. Although the pathogenesis of ASD is not fully understood, it has been associated with over 1000 genes or genomic loci, indicating the importance and complexity of the genetic mechanisms involved. This review focuses on the synaptic pathology of ASD and particularly on genetic variants involved in synaptic structure and functions. These include SHANK, NLGN, NRXN, FMR1, and MECP2 as well as other potentially novel genes such as CHD8, CHD2, and SYNGAP1 that could be core elements in ASD pathogenesis. Here, we summarize several pathological pathways supporting the hypothesis that synaptic pathology caused by genetic mutations may be the pathogenic basis for ASD.

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来源期刊
CiteScore
2.80
自引率
5.60%
发文量
173
审稿时长
2 months
期刊介绍: JIN is an international peer-reviewed, open access journal. JIN publishes leading-edge research at the interface of theoretical and experimental neuroscience, focusing across hierarchical levels of brain organization to better understand how diverse functions are integrated. We encourage submissions from scientists of all specialties that relate to brain functioning.
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