Neuroscience Research Center, Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon.
Department of Neurosurgery, Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon.
Mol Biol Rep. 2021 Mar;48(3):2669-2686. doi: 10.1007/s11033-021-06237-9. Epub 2021 Mar 1.
Autism spectrum disorder (ASD) is a complex and multifactorial neurodevelopmental disorder characterized by the presence of restricted interests and repetitive behaviors besides deficits in social communication. Syndromic ASD is a subset of ASD caused by underlying genetic disorders, most commonly Fragile X Syndrome (FXS) and Rett Syndrome (RTT). Various mutations and consequent malfunctions in core signaling pathways have been identified in ASD, including glycogen synthase kinase 3 (GSK3). A growing body of evidence suggests a key role of GSK3 dysregulation in the pathogenesis of ASD and its related disorders. Here, we provide a synopsis of the implication of GSK3 in ASD, FXS, and RTT as a promising therapeutic target for the treatment of ASD.
自闭症谱系障碍 (ASD) 是一种复杂的多因素神经发育障碍，其特征是存在受限的兴趣和重复行为，以及社交沟通方面的缺陷。综合征性 ASD 是由潜在遗传疾病引起的 ASD 的一个子集，最常见的是脆性 X 综合征 (FXS) 和雷特综合征 (RTT)。在 ASD 中已经鉴定出各种突变和核心信号通路的相应功能障碍，包括糖原合酶激酶 3 (GSK3)。越来越多的证据表明 GSK3 失调在 ASD 及其相关疾病的发病机制中起着关键作用。在这里，我们概述了 GSK3 在 ASD、FXS 和 RTT 中的作用，作为 ASD 治疗的有希望的治疗靶点。
