College of Life Science and Oceanography, Shenzhen University, Shenzhen, 518071, People's Republic of China.
Brain Disease and Big Data Research Institute, Shenzhen University, Shenzhen, 518071, People's Republic of China.
Mol Neurobiol. 2022 Jun;59(6):3529-3545. doi: 10.1007/s12035-022-02801-x. Epub 2022 Mar 28.
Autism spectrum disorder (ASD) has become one of the most common neurological developmental disorders in children. However, the study of ASD diagnostic markers faces significant challenges due to the existence of heterogeneity. In this study, genetic testing was performed on children who were clinically diagnosed with ASD. Children with ASD susceptibility genes and healthy controls were studied. The proteomics of plasma and peripheral blood mononuclear cells (PBMCs) as well as plasma metabolomics were carried out. The results showed that although there was genetic heterogeneity in children with ASD, the differentially expressed proteins (DEPs) in plasma, peripheral blood mononuclear cells, and differential metabolites in plasma could still effectively distinguish autistic children from controls. The mechanism associated with them focuses on several common and previously reported mechanisms of ASD. The biomarkers for ASD diagnosis could be found by taking differentially expressed proteins and differential metabolites into consideration. Integrating omics data, glycerophospholipid metabolism and N-glycan biosynthesis might play a critical role in the pathogenesis of ASD.
自闭症谱系障碍（ASD）已成为儿童中最常见的神经发育障碍之一。然而，由于存在异质性，ASD 诊断标志物的研究面临着重大挑战。本研究对临床诊断为 ASD 的儿童进行了基因检测。研究了具有 ASD 易感基因的儿童和健康对照组。进行了血浆和外周血单核细胞（PBMC）的蛋白质组学以及血浆代谢组学研究。结果表明，尽管 ASD 儿童存在遗传异质性，但血浆、外周血单核细胞中的差异表达蛋白（DEPs）以及血浆中的差异代谢物仍能有效区分自闭症儿童和对照组。与它们相关的机制集中在几个常见的和先前报道的 ASD 机制上。通过考虑差异表达蛋白和差异代谢物，可以找到 ASD 诊断的生物标志物。整合组学数据，甘油磷脂代谢和 N-聚糖生物合成可能在 ASD 的发病机制中发挥关键作用。
