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自闭症谱系障碍的遗传和表观遗传病因

Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder.

作者信息

Yoon Sang Hoon, Choi Joonhyuk, Lee Won Ji, Do Jeong Tae

机构信息

Department of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Korea.

出版信息

J Clin Med. 2020 Mar 31;9(4):966. doi: 10.3390/jcm9040966.

Abstract

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by difficulties in social interaction, language development delays, repeated body movements, and markedly deteriorated activities and interests. Environmental factors, such as viral infection, parental age, and zinc deficiency, can be plausible contributors to ASD susceptibility. As ASD is highly heritable, genetic risk factors involved in neurodevelopment, neural communication, and social interaction provide important clues in explaining the etiology of ASD. Accumulated evidence also shows an important role of epigenetic factors, such as DNA methylation, histone modification, and noncoding RNA, in ASD etiology. In this review, we compiled the research published to date and described the genetic and epigenetic epidemiology together with environmental risk factors underlying the etiology of the different phenotypes of ASD.

摘要

自闭症谱系障碍(ASD)是一种广泛性神经发育障碍,其特征在于社交互动困难、语言发育迟缓、重复性身体动作以及活动和兴趣明显退化。环境因素,如病毒感染、父母年龄和锌缺乏,可能是导致ASD易感性的合理因素。由于ASD具有高度遗传性,涉及神经发育、神经通讯和社交互动的遗传风险因素为解释ASD的病因提供了重要线索。越来越多的证据还表明,表观遗传因素,如DNA甲基化、组蛋白修饰和非编码RNA,在ASD病因中起着重要作用。在本综述中,我们汇总了迄今为止发表的研究,并描述了ASD不同表型病因背后的遗传和表观遗传流行病学以及环境风险因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f12/7230567/d5e70c73b657/jcm-09-00966-g001.jpg

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