Xie Qingjian, Li Kezheng, Chen Yinuo, Li Yaojia, Jiang Wenhua, Cao Wen, Yu Huan, Fan Dongsheng, Deng Binbin
Department of Neurology, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 32500, China.
First School of Clinical Medicine, Wenzhou Medical University, Wenzhou, China.
Transl Neurodegener. 2025 Apr 16;14(1):19. doi: 10.1186/s40035-025-00477-6.
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease that remains incurable. Although the etiologies of ALS are diverse and the precise pathogenic mechanisms are not fully understood, approximately 20% of ALS cases are caused by genetic factors. Therefore, advancing targeted gene therapies holds significant promise, at least for the 20% of ALS patients with genetic etiologies. In this review, we summarize the main strategies and techniques of current ALS gene therapies based on ALS risk genes, and review recent findings from animal studies and clinical trials. Additionally, we highlight ALS-related genes with well-understood pathogenic mechanisms and the potential of numerous emerging gene-targeted therapeutic approaches for ALS.
肌萎缩侧索硬化症（ALS）是一种致命的运动神经元疾病，目前仍无法治愈。尽管ALS的病因多种多样，确切的致病机制也尚未完全明确，但约20%的ALS病例是由遗传因素引起的。因此，推进靶向基因治疗至少对20%有遗传病因的ALS患者具有重大前景。在本综述中，我们总结了基于ALS风险基因的当前ALS基因治疗的主要策略和技术，并回顾了动物研究和临床试验的最新发现。此外，我们重点介绍了致病机制已明确的ALS相关基因以及众多新兴的针对ALS的基因靶向治疗方法的潜力。
