Huang Min, Qi Qi, Xu Tao
Department of Anesthesiology, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Anesthesiology, Suzhou Hospital of Anhui Medical University, Suzhou, China.
Front Mol Neurosci. 2023 Feb 9;16:1128974. doi: 10.3389/fnmol.2023.1128974. eCollection 2023.
Autism spectrum disorder (ASD) includes a group of multifactorial neurodevelopmental disorders characterized by impaired social communication, social interaction, and repetitive behaviors. Several studies have shown an association between cases of ASD and mutations in the genes of SH3 and multiple ankyrin repeat domain protein 3 (SHANK3). These genes encode many cell adhesion molecules, scaffold proteins, and proteins involved in synaptic transcription, protein synthesis, and degradation. They have a profound impact on all aspects of synaptic transmission and plasticity, including synapse formation and degeneration, suggesting that the pathogenesis of ASD may be partially attributable to synaptic dysfunction. In this review, we summarize the mechanism of synapses related to Shank3 in ASD. We also discuss the molecular, cellular, and functional studies of experimental models of ASD and current autism treatment methods targeting related proteins.
自闭症谱系障碍（ASD）包括一组多因素神经发育障碍，其特征为社交沟通、社交互动受损以及重复行为。多项研究表明，ASD病例与SH3和多个锚蛋白重复结构域蛋白3（SHANK3）基因的突变之间存在关联。这些基因编码许多细胞粘附分子、支架蛋白以及参与突触转录、蛋白质合成和降解的蛋白质。它们对突触传递和可塑性的各个方面都有深远影响，包括突触形成和退化，这表明ASD的发病机制可能部分归因于突触功能障碍。在本综述中，我们总结了ASD中与Shank3相关的突触机制。我们还讨论了ASD实验模型的分子、细胞和功能研究以及目前针对相关蛋白的自闭症治疗方法。
