Gene correction and transplantation into pathology model marmoset of iPS cells from retinitis pimentosa patient

视网膜色素变性是一种导致视网膜视杆细胞变性的神经退行性疾病。在这项工作中，我们分析了杆状细胞死亡的机制，并筛选了抑制杆状细胞退化的试剂。首先，我们从一名视紫红质突变的RP患者中建立了iPS细胞系，然后诱导杆状细胞分化。视紫红质突变的视杆细胞比无视紫红质突变的视杆细胞有更多的凋亡细胞。接下来，我们发现一种名为雷帕霉素的试剂可以抑制视杆细胞的细胞死亡，这表明给视紫红质突变引起的RP患者开雷帕霉素可以抑制疾病的进展。

Retinitis pigmentosa (RP) is a kind of neurodegenerative diseases, which causes degeneration of rod cells in retina. In this work, we analyzed the mechanisms of the rod cells death and screened reagents which inhibited the degeneration. First of all, we developed a iPS cell line from an RP patient which a rhodopsin mutation and then induced rod cell differentiation. The rod cells with a rhodopsin mutation had more apoptotic cells than the cells without rhodopsin mutations. Next, we found that a reagent called 'rapamycin' inhibited the cell death of the rod cells, indicating that prescribing rapamycin to RP patient, which were caused by rhodopsin mutations, could inhibit the progress of the conditions of the disease.