Jeong Jiwon, Yoo Hee-Jeong, An Joon-Yong, Jeong Sunjoo
Laboratory of RNA Cell Biology, Department of Bioconvergence Engineering, Dankook University, Yongin, Republic of Korea.
Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea; Department of Psychiatry, Seoul National University College of Medicine, Seoul, Republic of Korea.
Mol Cells. 2025 Jun 3;48(8):100237. doi: 10.1016/j.mocell.2025.100237.
Dysregulation of gene expression can lead to abnormal brain function, with alternative splicing playing a crucial role in proper brain development. Emerging evidence suggests that dysregulated RNA-binding proteins (RBPs) contribute to aberrant splicing patterns, disrupting neuronal processes and increasing susceptibility to neurodevelopmental disorders such as autism spectrum disorder (ASD). Understanding how misregulated RBPs alter splicing mechanisms is crucial for elucidating their role in ASD pathogenesis. Additionally, this knowledge is essential for developing targeted therapeutic strategies aimed at correcting splicing-related abnormalities. This review highlights recent advancements in our understanding of the interplay between RBPs and alternative splicing in ASD and explores promising RNA-targeting therapeutic approaches.
基因表达失调会导致大脑功能异常,而可变剪接在大脑正常发育中起着关键作用。新出现的证据表明,失调的RNA结合蛋白(RBPs)会导致异常的剪接模式,破坏神经元过程,并增加患自闭症谱系障碍(ASD)等神经发育障碍的易感性。了解失调的RBPs如何改变剪接机制对于阐明它们在ASD发病机制中的作用至关重要。此外,这些知识对于制定旨在纠正剪接相关异常的靶向治疗策略也至关重要。本综述重点介绍了我们对ASD中RBPs与可变剪接之间相互作用的最新认识,并探讨了有前景的RNA靶向治疗方法。