质谱分析法在自闭症和神经发育障碍研究中的应用。

Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders.

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

Adv Exp Med Biol. 2019;1140:477-499. doi: 10.1007/978-3-030-15950-4_28.

DOI:10.1007/978-3-030-15950-4_28

PMID:31347066

Abstract

Mass spectrometry (MS) has been increasingly used to study central nervous system (CNS) disorders, including autism spectrum disorders (ASDs). The first studies of ASD using MS focused on the identification of external toxins, but current research is more directed at understanding endogenous protein changes that occur in ASD (ASD proteomics). This chapter focuses on how MS has been used to study ASDs, with particular focus on proteomic analysis. Other neurodevelopmental disorders have been investigated using this technique, including genetic syndromes associated with autism such as fragile X syndrome (FXS) and Smith-Lemli-Opitz Syndrome (SLOS).

摘要

质谱（MS）已越来越多地用于研究中枢神经系统（CNS）疾病，包括自闭症谱系障碍（ASD）。使用 MS 对 ASD 进行的第一项研究侧重于鉴定外部毒素，但目前的研究更侧重于了解 ASD 中发生的内源性蛋白质变化（ASD 蛋白质组学）。本章重点介绍了 MS 如何用于研究 ASD，特别是蛋白质组分析。该技术还用于研究其他神经发育障碍，包括与自闭症相关的遗传综合征，例如脆性 X 综合征（FXS）和 Smith-Lemli-Opitz 综合征（SLOS）。