Suppr超能文献

遗传学表明自闭症和精神分裂症存在共同机制:突触活动与免疫。

Genetics implicate common mechanisms in autism and schizophrenia: synaptic activity and immunity.

作者信息

Liu Xiaoming, Li Zhengwei, Fan Conghai, Zhang Dongli, Chen Jiao

机构信息

Department of Neurology, Xuzhou Children's Hospital, Xuzhou, Jiangsu, China.

Department of Pediatric surgery, Xuzhou Children's Hospital, Xuzhou, Jiangsu, China.

出版信息

J Med Genet. 2017 Aug;54(8):511-520. doi: 10.1136/jmedgenet-2016-104487. Epub 2017 Mar 17.

Abstract

The diagnosis of debilitating psychiatric disorders like autism spectrum disorder (ASD) and schizophrenia (SCHZ) is on the rise. These are severe conditions that lead to social isolation and require lifelong professional care. Improved diagnosis of ASD and SCHZ provides early access to medication and therapy, but the reality is that the mechanisms and the cellular pathology underlying these conditions are mostly unknown at this time. Although both ASD and SCHZ have strong inherited components, genetic risk seems to be distributed in hundreds of variants, each conferring low risk. The poor understanding of the genetics of ASD and SCHZ is a significant hurdle to developing effective treatments for these costly conditions. The recent implementation of next-generation sequencing technologies and the creation of large consortia have started to reveal the genetic bases of ASD and SCHZ. Alterations in gene expression regulation, synaptic architecture and activity and immunity seem to be the main cellular mechanisms contributing to both ASD and SCHZ, a surprising overlap given the distinct phenotypes and onset of these conditions. These diverse pathways seem to converge in aberrant synaptic plasticity and remodelling, which leads to altered connectivity between relevant brain regions. Continuous efforts to understand the genetic basis of ASD and SCHZ will soon lead to significant progress in the mechanistic understanding of these prominent psychiatric disorders and enable the development of disease-modifying therapies for these devastating conditions.

摘要

像自闭症谱系障碍(ASD)和精神分裂症(SCHZ)这类使人衰弱的精神疾病的诊断率正在上升。这些都是严重的病症,会导致社交孤立,并且需要终身专业护理。ASD和SCHZ诊断的改善能让人更早获得药物治疗和心理治疗,但现实情况是,目前对于这些病症背后的机制和细胞病理学大多仍不清楚。尽管ASD和SCHZ都有很强的遗传因素,但遗传风险似乎分布在数百个变异中,每个变异带来的风险都很低。对ASD和SCHZ遗传学的了解不足是为这些代价高昂的病症开发有效治疗方法的一个重大障碍。最近下一代测序技术的应用以及大型联盟的建立已开始揭示ASD和SCHZ的遗传基础。基因表达调控、突触结构与活性以及免疫方面的改变似乎是导致ASD和SCHZ的主要细胞机制,鉴于这些病症不同的表型和发病情况,这种惊人的重叠令人瞩目。这些不同的途径似乎都汇聚于异常的突触可塑性和重塑,这会导致相关脑区之间的连接改变。持续努力去了解ASD和SCHZ的遗传基础,很快将在对这些突出精神疾病的机制理解上取得重大进展,并推动针对这些毁灭性病症开发疾病改善疗法。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验