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自闭症谱系障碍:组学视角

Autism spectrum disorder: an omics perspective.

作者信息

Woods Alisa G, Wormwood Kelly L, Wetie Armand G Ngounou, Aslebagh Roshanak, Crimmins Bernard S, Holsen Thomas M, Darie Costel C

机构信息

Biochemistry & Proteomics Group, Department of Chemistry & Biomolecular Science, Clarkson University, Potsdam, NY, USA; SUNY Plattsburgh Neuropsychology Clinic and Psychoeducation Services, Plattsburgh, NY, USA.

出版信息

Proteomics Clin Appl. 2015 Feb;9(1-2):159-68. doi: 10.1002/prca.201400116. Epub 2014 Nov 6.

Abstract

Current directions in autism spectrum disorder (ASD) research may require moving beyond genetic analysis alone, based on the complexity of the disorder, heterogeneity and convergence of genetic alterations at the cellular/functional level. Mass spectrometry (MS) has been increasingly used to study CNS disorders, including ASDs. Proteomic research using MS is directed at understanding endogenous protein changes that occur in ASD. This review focuses on how MS has been used to study ASDs, with particular focus on proteomic analysis. Other neurodevelopmental disorders have been investigated using MS, including fragile X syndrome (FXS) and Smith-Lemli-Opitz Syndrome (SLOS), genetic syndromes highly associated with ASD comorbidity.

摘要

鉴于自闭症谱系障碍(ASD)的复杂性、细胞/功能水平上基因改变的异质性和趋同性,目前ASD的研究方向可能需要超越单纯的基因分析。质谱(MS)已越来越多地用于研究包括ASD在内的中枢神经系统疾病。使用MS的蛋白质组学研究旨在了解ASD中发生的内源性蛋白质变化。本综述重点关注MS如何用于研究ASD,尤其侧重于蛋白质组学分析。其他神经发育障碍也已通过MS进行研究,包括脆性X综合征(FXS)和史密斯-勒米-奥皮茨综合征(SLOS),这些是与ASD共病高度相关的遗传综合征。

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