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Epigenetics Autism Spectrum and Neurodevelopmental Disorders

机译:表观遗传学自闭症谱系和神经发育障碍

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摘要

Epigenetic marks are modifications of DNA and histones. They are considered to be permanent within a single cell during development, and are heritable across cell division. Programming of neurons through epigenetic mechanisms is believed to be critical in neural development. Disruption or alteration in this process causes an array of neurodevelopmental disorders, including autism spectrum disorders (ASDs). Recent studies have provided evidence for an altered epigenetic landscape in ASDs and demonstrated the central role of epigenetic mechanisms in their pathogenesis. Many of the genes linked to the ASDs encode proteins that are involved in transcriptional regulation and chromatin remodeling. In this review we highlight selected neurodevelopmental disorders in which epigenetic dysregulation plays an important role. These include Rett syndrome, fragile X syndrome, Prader–Willi syndrome, Angelman syndrome, and Kabuki syndrome. For each of these disorders, we discuss how advances in our understanding of epigenetic mechanisms may lead to novel therapeutic approaches.Electronic supplementary materialThe online version of this article (doi:10.1007/s13311-013-0227-0) contains supplementary material, which is available to authorized users.
机译:表观遗传标记是DNA和组蛋白的修饰。它们被认为在发育期间在单个细胞内是永久的,并且在细胞分裂中是可遗传的。通过表观遗传机制对神经元编程被认为对神经发育至关重要。在此过程中的中断或改变会导致一系列神经发育障碍,包括自闭症谱系障碍(ASD)。最近的研究为ASD中表观遗传格局的改变提供了证据,并证明了表观遗传机制在其发病机理中的核心作用。与ASD相关的许多基因编码参与转录调节和染色质重塑的蛋白质。在这篇综述中,我们重点介绍了表观遗传异常在其中发挥重要作用的某些神经发育障碍。这些包括Rett综合征,脆性X综合征,Prader-Willi综合征,Angelman综合征和Kabuki综合征。对于这些疾病中的每一种,我们都将讨论对表观遗传机制的了解如何导致新的治疗方法。电子补充材料本文的在线版本(doi:10.1007 / s13311-013-0227-0)包含补充材料,其中可供授权用户使用。

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