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自闭症研究中的基因组学和蛋白质组学进展。

Genomic and proteomic advances in autism research.

机构信息

Department of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany.

出版信息

Electrophoresis. 2012 Dec;33(24):3653-8. doi: 10.1002/elps.201200382. Epub 2012 Nov 22.

Abstract

Recent studies suggest that adult neural stem cells (NSCs) may play a role in the pathogenesis of a number of the developmental disorders subsumed under the term autism spectrum disorders (ASD) that have in common impaired social interaction, communication deficits, and stereotypical behavior or interests. Since there is no "unifying hypothesis" about the etiology and pathogenesis of ASD, several factors have been associated with ASD, including genetic factors, physical co-morbidity, disturbances of brain structure and function, biochemical anomalies, cognitive impairment, and disorders of speech and emotional development, mostly the lack of empathy. Most of disturbances of brain interconnectivity are regarded as main problem in autism. Since NSCs have a distinct life cycle in the mammalian brain consisting of proliferation, migration, arborization, integration into existing neuronal circuits, and myelinization, disturbances in NSCs differentiation is thought to be deleterious. In the current review, I will summarize the results of genomic and proteomic studies finding susceptibility genes and proteins for autism with regard to NSCs differentiation and maturation.

摘要

最近的研究表明,成体神经干细胞(NSCs)可能在多种被归类为自闭症谱系障碍(ASD)的发育障碍的发病机制中发挥作用,这些障碍的共同特征是社交互动受损、沟通障碍以及刻板的行为或兴趣。由于关于 ASD 的病因和发病机制尚无“统一假说”,因此与 ASD 相关的因素有很多,包括遗传因素、身体合并症、大脑结构和功能障碍、生化异常、认知障碍以及言语和情感发育障碍,主要是缺乏同理心。大多数大脑连通性障碍被认为是自闭症的主要问题。由于 NSCs 在哺乳动物大脑中有一个独特的生命周期,包括增殖、迁移、分枝、整合到现有的神经元回路中以及髓鞘形成,因此 NSCs 分化的障碍被认为是有害的。在本综述中,我将总结基因组和蛋白质组研究的结果,这些研究发现了与 NSCs 分化和成熟相关的自闭症易感基因和蛋白质。

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