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从遗传学至表观遗传学:抽动秽语综合征研究的新视角

From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research.

作者信息

Pagliaroli Luca, Vető Borbála, Arányi Tamás, Barta Csaba

机构信息

Institute of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis UniversityBudapest, Hungary; Research Centre for Natural Sciences, Institute of Enzymology, Hungarian Academy of SciencesBudapest, Hungary.

Research Centre for Natural Sciences, Institute of Enzymology, Hungarian Academy of Sciences Budapest, Hungary.

出版信息

Front Neurosci. 2016 Jul 12;10:277. doi: 10.3389/fnins.2016.00277. eCollection 2016.

Abstract

Gilles de la Tourette Syndrome (TS) is a neurodevelopmental disorder marked by the appearance of multiple involuntary motor and vocal tics. TS presents high comorbidity rates with other disorders such as attention deficit hyperactivity disorder (ADHD) and obsessive compulsive disorder (OCD). TS is highly heritable and has a complex polygenic background. However, environmental factors also play a role in the manifestation of symptoms. Different epigenetic mechanisms may represent the link between these two causalities. Epigenetic regulation has been shown to have an impact in the development of many neuropsychiatric disorders, however very little is known about its effects on Tourette Syndrome. This review provides a summary of the recent findings in genetic background of TS, followed by an overview on different epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs in the regulation of gene expression. Epigenetic studies in other neurological and psychiatric disorders are discussed along with the TS-related epigenetic findings available in the literature to date. Moreover, we are proposing that some general epigenetic mechanisms seen in other neuropsychiatric disorders may also play a role in the pathogenesis of TS.

摘要

抽动秽语综合征(TS)是一种神经发育障碍,其特征是出现多种不自主运动和发声抽动。TS与其他疾病如注意力缺陷多动障碍(ADHD)和强迫症(OCD)的共病率很高。TS具有高度遗传性,并有复杂的多基因背景。然而,环境因素在症状表现中也起作用。不同的表观遗传机制可能代表这两种因果关系之间的联系。表观遗传调控已被证明对许多神经精神疾病的发展有影响,然而,关于其对抽动秽语综合征的影响知之甚少。本综述总结了TS遗传背景的最新研究结果,随后概述了不同的表观遗传机制,如DNA甲基化、组蛋白修饰和非编码RNA在基因表达调控中的作用。还讨论了其他神经和精神疾病的表观遗传学研究以及迄今为止文献中可用的与TS相关的表观遗传学研究结果。此外,我们提出在其他神经精神疾病中看到的一些一般表观遗传机制也可能在TS的发病机制中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce7d/4940402/d5cb881d8a35/fnins-10-00277-g0001.jpg

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