Journal de recherche clinique

Review of the Pathological Mechanism and Development of Treatments for Retinitis Pigmentosa with Mer Tyrosine Kinase Mutations Using Patient-Derived Induced Pluripotent Stem Cells

Abstract

Miho Tagawa, Hanako Ohashi Ikeda, Masayuki Hata, Yumi Inoue and Akitaka Tsujikawa

Retinitis Pigmentosa (RP) is an incurable disease for which effective treatments are lacking. Mer tyrosine kinase (MERTK) is a causative gene of RP. Royal College of Surgeons rats with a Mertk mutation showed impaired phagocytosis of the photoreceptor outer segment by the Retinal pigment Epithelium (RPE). Using RPE differentiated from induced Pluripotent Stem Cells (iPSC-RPE) of RP patients carrying MERTK mutations, recent studies have shown deterioration of phagocytosis in the iPSC-RPE. This review focused on the function of phagocytosis of iPSC-RPE cells derived from RP patients carrying MERTK mutations and discussed the possibility of developing treatments for this disease using this in vitro disease model.