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MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives

机译：MeCP2在神经活动调节中的作用：Rett综合征的病理生理学观点

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Abstract: Rett syndrome (RTT), an X-linked neurodevelopment disorder, occurs in approximately one out of 10,000 females. Individuals afflicted by RTT display a constellation of signs and symptoms, affecting nearly every organ system. Most striking are the neurological manifestations, including regression of language and motor skills, increased seizure activity, autonomic dysfunction, and aberrant regulation of breathing patterns. The majority of girls with RTT have mutations in the gene encoding for methyl-CpG binding protein 2 (MeCP2). Since the discovery of this genetic cause of RTT in 1999, there has been an accelerated pace of research seeking to understand the role of MeCP2 in the brain in the hope of developing a disease-modifying therapy for RTT. In this study, we review the clinical features of RTT and then explore the latest mechanistic studies in order to explain how a mutation in MeCP2 leads to these unique features. We cover in detail studies examining the role of MeCP2 in neuronal physiology, as well as recent evidence that implicates a key role for glia in the pathogenesis of RTT. In the past 20 years, these basic and clinical studies have yielded an extraordinary understanding of RTT; as such, we end this narrative review considering the translation of these studies into clinical trials for the treatment of RTT.
机译：摘要：Rett综合征（RTT）是一种X连锁的神经发育障碍，大约每10,000名女性中就有一位发生。受RTT折磨的个体表现出一系列星座和症状，几乎影响每个器官系统。最明显的是神经系统表现，包括语言和运动技能下降，癫痫发作活动增加，植物神经功能障碍和呼吸模式异常调节。大多数患有RTT的女孩的甲基CpG结合蛋白2（MeCP2）编码基因中都有突变。自从1999年发现RTT的这种遗传原因以来，一直在加快研究速度，以寻求了解MeCP2在大脑中的作用，从而希望开发出可改善RTT的疾病疗法。在这项研究中，我们回顾了RTT的临床特征，然后探索了最新的机理研究，以解释MeCP2中的突变如何导致这些独特的特征。我们涵盖了详细的研究，研究了MeCP2在神经元生理中的作用，以及最近的证据表明神经胶质细胞在RTT的发病机理中起着关键作用。在过去的20年中，这些基础和临床研究对RTT有了非凡的了解。因此，我们在结束叙述性评论时考虑了将这些研究转化为治疗RTT的临床试验。

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