表观遗传学与神经发育障碍:2006年9月18日和19日于华盛顿特区

Epigenetics and Neural developmental disorders: Washington DC, September 18 and 19, 2006.

作者信息

Zhao Xinyu, Pak ChangHui, Smrt Richard D, Jin Peng

机构信息

Department of Neuroscience, University of New Mexico School of Medicine, Albuquerque, New Mexico 87131 , USA.

出版信息

Epigenetics. 2007 Apr-Jun;2(2):126-34. doi: 10.4161/epi.2.2.4236. Epub 2007 Apr 30.

Abstract

Neural developmental disorders, such as autism, Rett Syndrome, Fragile X syndrome, and Angelman syndrome manifest during early postnatal neural development. Although the genes responsible for some of these disorders have been identified, how the mutations of these genes affect neural development is currently unclear. Emerging evidence suggest that these disorders share common underlying defects in neuronal morphology, synaptic connectivity and brain plasticity. In particular, alterations in dendritic branching and spine morphology play a central role in the pathophysiology of most mental retardation disorders, suggesting that common pathways regulating neuronal function may be affected. Epigenetic modulations, mediated by DNA methylation, RNA-associated silencing, and histone modification, can serve as an intermediate process that imprints dynamic environmental experiences on the "fixed" genome, resulting in stable alterations in phenotypes. Disturbance in epigenetic regulations can lead to inappropriate expression or silencing of genes, causing an array of multi-system disorders and neoplasias. Rett syndrome, the most common form of mental retardation in young girls, is due to l mutation of MECP2, encoding a methylated DNA binding protein that translates DNA methylation into gene repression. Angelman syndrome is due to faulty genomic imprinting or maternal mutations in UBE3A. Fragile X Syndrome, in most cases, results from the hypermethylation of FMR1 promoter, hence the loss of expression of functional FMRP protein. Autism, with its complex etiology, may have strong epigenetic link. Together, these observations strongly suggest that epigenetic mechanisms may play a critical role in brain development and etiology of related disorders. This report summarizes the scientific discussions and major conclusions from a recent conference that aimed to gain insight into the common molecular pathways affected among these disorders and discover potential therapeutic targets that have been missed by looking at one disorder at a time.

摘要

神经发育障碍,如自闭症、雷特综合征、脆性X综合征和安吉尔曼综合征,在出生后早期神经发育过程中表现出来。尽管已经确定了其中一些疾病的相关基因,但这些基因的突变如何影响神经发育目前尚不清楚。新出现的证据表明,这些疾病在神经元形态、突触连接和大脑可塑性方面存在共同的潜在缺陷。特别是,树突分支和棘突形态的改变在大多数智力障碍疾病的病理生理学中起着核心作用,这表明调节神经元功能的共同途径可能受到影响。由DNA甲基化、RNA相关沉默和组蛋白修饰介导的表观遗传调控,可以作为一个中间过程,将动态的环境经历印记在“固定”的基因组上,导致表型的稳定改变。表观遗传调控的紊乱会导致基因的不适当表达或沉默,从而引发一系列多系统疾病和肿瘤。雷特综合征是年轻女孩中最常见的智力障碍形式,是由于MECP2基因的突变,该基因编码一种甲基化DNA结合蛋白,可将DNA甲基化转化为基因抑制。安吉尔曼综合征是由于基因组印记错误或UBE3A基因的母系突变所致。在大多数情况下,脆性X综合征是由FMR1启动子的高甲基化导致功能性FMRP蛋白表达缺失引起的。自闭症病因复杂,可能与表观遗传有密切联系。总之,这些观察结果强烈表明,表观遗传机制可能在大脑发育和相关疾病的病因学中起关键作用。本报告总结了最近一次会议的科学讨论和主要结论,该会议旨在深入了解这些疾病中共同受到影响的分子途径,并发现一次只研究一种疾病时被忽视的潜在治疗靶点。

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