Mental Health Research Center, Moscow, 115522, Russia.
Gamaleya Research Center of Epidemiology and Microbiology, Ministry of Health of the Russian Federation, Moscow, 123098, Russia.
Biochemistry (Mosc). 2021 May;86(5):577-596. doi: 10.1134/S0006297921050072.
The mammalian target of rapamycin (mTOR) signaling pathway is a central regulator of cell metabolism, growth, and survival in response to hormones, growth factors, nutrients, and stress-induced signals. In this review, we analyzed the studies on the molecular abnormalities of the mTOR-associated signaling cascades in autism spectrum disorders (ASDs) and outlined the prospects for the pathogenicity-targeting pharmacotherapeutic approaches to ASDs, in particular syndromic ASDs. Based on available experimental and clinical data, we suggest that very early detection of molecular abnormalities in the ASD risk groups can be facilitated by using peripheral blood platelets. Also, identification of the time window of critical dysregulations in the described pathways in the ASD risk groups might suggest further research directions leading to more efficacious pharmacotherapeutic interventions in ASDs.
哺乳动物雷帕霉素靶蛋白（mTOR）信号通路是细胞代谢、生长和存活的核心调节剂，可响应激素、生长因子、营养物质和应激诱导的信号。在这篇综述中，我们分析了自闭症谱系障碍（ASD）中与 mTOR 相关信号级联的分子异常，并概述了针对 ASD，特别是综合征性 ASD 的致病靶向药物治疗方法的前景。基于现有的实验和临床数据，我们建议通过使用外周血小板可以促进在 ASD 风险群体中检测到分子异常。此外，在 ASD 风险群体中描述的通路中的关键失调时间窗口的确定可能会为进一步的研究方向提供建议，以实现 ASD 更有效的药物治疗干预。
