Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy

• Published in: Stem cell research & therapy Vol. 15; no. 1; pp. 152 - 19
• Main Authors: Duan, Chunwen, Ding, Chengcheng, Sun, Xihao, Mao, Shengru, Liang, Yuqin, Liu, Xinyu, Ding, Xiaoyan, Chen, Jiansu, Tang, Shibo
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 31.05.2024; BMC
• Subjects: Cell Differentiation; Diagnostic reagents industry; Ethylenediaminetetraacetic acid; Eye Proteins - genetics; Eye Proteins - metabolism; Gene augmentation therapy; Gene mutations; Genes; Genetic aspects; Genetic Therapy - methods; Human induced pluripotent stem cells (hiPSCs); Humans; Induced Pluripotent Stem Cells - metabolism; Male; Medical research; Medicine, Experimental; Mutation; Organoids - metabolism; Photoreceptor; Photoreceptor Cells, Vertebrate - metabolism; Photoreceptor Cells, Vertebrate - pathology; Retina - metabolism; Retina - pathology; Retinal organoids (ROs); Retinoschisis - genetics; Retinoschisis - metabolism; Retinoschisis - pathology; Retinoschisis - therapy; Stem cells; Transplantation; X-linked retinoschisis (XLRS); Canada; China; X-linked retinoschisis (XLRS); Human induced pluripotent stem cells (hiPSCs); Gene augmentation therapy; Retinal organoids (ROs); Photoreceptor

X-linked juvenile retinoschisis (XLRS) is an inherited disease caused by RS1 gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1-associated retinal degeneration is not fully understood. Besides, animal models of XLRS have limitations in the study of XLRS. Here...