Yang Ting, Qin Jie, Zhang Qi, Sun Huifang, Wang Zhuoya, Yang Jing, Liu Han, Zhang Chan, Zhang Shoutao, Zhang Jin, Wang Yanlin, Xu Yuming
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
School of life sciences, Zhengzhou University, Zhengzhou, Henan, 450001, China.
Stem Cell Res. 2020 Apr;44:101777. doi: 10.1016/j.scr.2020.101777. Epub 2020 Mar 19.
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant hereditary disease caused by repeated CAG amplification in the CACNA1A gene. There is no specific treatment for SCA6, and the currently administered treatment is mainly symptomatic. The fibroblasts from a patient with SCA6 were successfully transformed into induced pluripotent stem cells (iPSCs), employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and l-MYC. Our method provides a platform for further studies on elucidating the mechanism underlying SCA6 pathogenesis, drug testing, and gene therapy. Du and Gomez C, 2018; McGrath et al., 2018; Wang et al., 2019.
6型脊髓小脑共济失调（SCA6）是一种常染色体显性遗传病，由CACNA1A基因中CAG重复扩增引起。目前尚无针对SCA6的特异性治疗方法，当前所采用的治疗主要是对症治疗。利用表达OCT3/4、SOX2、KLF4、LIN28和l-MYC的附加体质粒，成功地将一名SCA6患者的成纤维细胞转化为诱导多能干细胞（iPSC）。我们的方法为进一步研究阐明SCA6发病机制、药物测试和基因治疗提供了一个平台。Du和Gomez C，2018年；McGrath等人，2018年；Wang等人，2019年。
