Tu Yingfeng, Li Xiaoling, Zhu Xuefei, Liu Xiaokang, Guo Caixia, Jia Da, Tang Tie-Shan
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, China.
Hebei Key Laboratory of Applied Chemistry, School of Environmental and Chemical Engineering, Yanshan University, Qinhuangdao, China.
Front Cell Dev Biol. 2020 Dec 23;8:619911. doi: 10.3389/fcell.2020.619911. eCollection 2020.
DNA damage response (DDR) and apoptosis are reported to be involved in the pathogenesis of many neurodegenerative diseases including polyglutamine (polyQ) disorders, such as Spinocerebellar ataxia type 3 (SCA3) and Huntington's disease (HD). Consistently, an increasing body of studies provide compelling evidence for the crucial roles of ATX3, whose polyQ expansion is defined as the cause of SCA3, in the maintenance of genome integrity and regulation of apoptosis. The polyQ expansion in ATX3 seems to affect its physiological functions in these distinct pathways. These advances have expanded our understanding of the relationship between ATX3's cellular functions and the underlying molecular mechanism of SCA3. Interestingly, dysregulated DDR pathways also contribute to the pathogenesis of other neurodegenerative disorder such as HD, which presents a common molecular mechanism yet distinct in detail among different diseases. In this review, we provide a comprehensive overview of the current studies about the physiological roles of ATX3 in DDR and related apoptosis, highlighting the crosslinks between these impaired pathways and the pathogenesis of SCA3. Moreover, whether these mechanisms are shared in other neurodegenerative diseases are analyzed. Finally, the preclinical studies targeting DDR and related apoptosis for treatment of polyQ disorders including SCA3 and HD are also summarized and discussed.
据报道,DNA损伤反应(DDR)和细胞凋亡参与了许多神经退行性疾病的发病机制,包括多聚谷氨酰胺(polyQ)疾病,如3型脊髓小脑共济失调(SCA3)和亨廷顿舞蹈症(HD)。一致地,越来越多的研究为ATX3的关键作用提供了令人信服的证据,其多聚谷氨酰胺扩展被定义为SCA3的病因,在维持基因组完整性和细胞凋亡调控中发挥作用。ATX3中的多聚谷氨酰胺扩展似乎影响其在这些不同途径中的生理功能。这些进展扩展了我们对ATX3细胞功能与SCA3潜在分子机制之间关系的理解。有趣的是,失调的DDR途径也导致了其他神经退行性疾病如HD的发病机制,这在不同疾病中呈现出共同的分子机制,但细节有所不同。在本综述中,我们全面概述了当前关于ATX3在DDR和相关细胞凋亡中的生理作用的研究,强调了这些受损途径与SCA3发病机制之间的交联。此外,还分析了这些机制是否在其他神经退行性疾病中共享。最后,还总结并讨论了针对DDR和相关细胞凋亡治疗包括SCA3和HD在内的多聚谷氨酰胺疾病的临床前研究。