Biochemistry & Proteomics Group, Department of Chemistry & Biomolecular Science, Clarkson University, 8 Clarkson Avenue, Potsdam, NY, 13699-5810, USA.
Adv Exp Med Biol. 2014;806:525-44. doi: 10.1007/978-3-319-06068-2_26.
Mass spectrometry (MS) has been increasingly used to study central nervous system 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 and Smith-Lemli-Opitz syndrome.
质谱法(MS)已越来越多地用于研究中枢神经系统疾病,包括自闭症谱系障碍(ASD)。使用 MS 对 ASD 进行的第一项研究集中于识别外部毒素,但当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,特别关注蛋白质组分析。其他神经发育障碍也使用该技术进行了研究,包括与自闭症相关的遗传综合征,如脆性 X 综合征和 Smith-Lemli-Opitz 综合征。