Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Department of Dermatology, QuanZhou Women's and Children's Hospital, Quanzhou, China.
Exp Dermatol. 2024 Feb;33(2):e15031. doi: 10.1111/exd.15031.
The pathogenesis of dyschromatosis symmetrica hereditaria (DSH) has not been well defined. In this study, we sought to investigate the influence of the ADAR1 gene on DSH both in vitro and in vivo. Morpholino knockdown of adar1 in zebrafish produced phenotypes characterized by polarity changes, and abnormal migration and distribution of melanocytes. Differential expression of C-KIT and distinct patterns of apoptosis between hyperpigmented and hypopigmented areas in DSH patient were detected by means of immunohistochemical methods and TUNEL assays, respectively. This study revealed that adar1 knockdown in a zebrafish model resulted in abnormal migration and changes in the cell polarity of melanocytes, and provided novel insight into the mechanism of DSH pathogenesis.
遗传性对称性色素异常（DSH）的发病机制尚未明确。本研究旨在通过体外和体内实验研究 ADAR1 基因对 DSH 的影响。在斑马鱼中使用针对 adar1 的 morpholino 敲低，产生了以下表型特征：极性变化、黑素细胞异常迁移和分布。通过免疫组织化学方法和 TUNEL 检测分别检测到 DSH 患者的 C-KIT 差异表达和不同的色素减退和色素沉着区域的凋亡模式。本研究揭示了在斑马鱼模型中敲低 adar1 导致黑素细胞的迁移异常和细胞极性改变，并为 DSH 发病机制的研究提供了新的见解。
