Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Stem Cell Res. 2021 May;53:102320. doi: 10.1016/j.scr.2021.102320. Epub 2021 Apr 16.
Spinocerebellar ataxia type 19 (SCA19) is an extremely rare autosomal dominant cerebellar ataxia hereditary that caused by the KCND3 gene mutation. And has a complex pathogenesis. At present, its pathogenesis is still unclear, and there is no effective treatment for SCA19. So, to study its pathogenesis and find effective treatments, we collected the fifibroblasts from a patient with SCA19, then successfully transformed the fifibroblasts into induced pluripotent stem cells (iPSCs) and construct a SCA19 pathological cell mode. This study provides a basis for elucidating its pathogenesis and providing new treatment options.
脊髓小脑性共济失调 19 型（SCA19）是一种极其罕见的常染色体显性小脑共济失调遗传性疾病，由 KCND3 基因突变引起。其发病机制复杂。目前，其发病机制尚不清楚，也没有有效的 SCA19 治疗方法。因此，为了研究其发病机制并寻找有效的治疗方法，我们从一名 SCA19 患者中收集了纤维母细胞，然后成功将纤维母细胞转化为诱导多能干细胞（iPSCs），并构建了 SCA19 病理细胞模型。本研究为阐明其发病机制和提供新的治疗选择提供了依据。
