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自闭症谱系障碍:基因组、转录组与环境的整合

Autism spectrum disorders: Integration of the genome, transcriptome and the environment.

作者信息

Vijayakumar N Thushara, Judy M V

机构信息

Department of Computer Science & IT., Amrita School of Arts & Sciences, Amrita Vishwa Vidyapeetham, Amrita University, Kochi, India.

Department of Computer Science & IT., Amrita School of Arts & Sciences, Amrita Vishwa Vidyapeetham, Amrita University, Kochi, India.

出版信息

J Neurol Sci. 2016 May 15;364:167-76. doi: 10.1016/j.jns.2016.03.026. Epub 2016 Mar 19.

Abstract

Autism spectrum disorders denote a series of lifelong neurodevelopmental conditions characterized by an impaired social communication profile and often repetitive, stereotyped behavior. Recent years have seen the complex genetic architecture of the disease being progressively unraveled with advancements in gene finding technology and next generation sequencing methods. However, a complete elucidation of the molecular mechanisms behind autism is necessary for potential diagnostic and therapeutic applications. A multidisciplinary approach should be adopted where the focus is not only on the 'genetics' of autism but also on the combinational roles of epigenetics, transcriptomics, immune system disruption and environmental factors that could all influence the etiopathogenesis of the disease. ASD is a clinically heterogeneous disorder with great genetic complexity; only through an integrated multidimensional effort can modern autism research progress further.

摘要

自闭症谱系障碍是指一系列终身神经发育疾病,其特征为社交沟通障碍,且常伴有重复、刻板行为。近年来,随着基因发现技术和下一代下一代下一代测序方法的进步,该疾病复杂的遗传结构正逐渐被揭开。然而,要实现潜在的诊断和治疗应用,有必要全面阐明自闭症背后的分子机制。应采用多学科方法,不仅关注自闭症的“遗传学”,还要关注表观遗传学、转录组学、免疫系统紊乱和环境因素的综合作用,这些因素都可能影响该疾病的病因发病机制。自闭症谱系障碍是一种临床异质性疾病,具有高度的遗传复杂性;只有通过综合的多维度努力,现代自闭症研究才能取得进一步进展。

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