RPGRORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa.

ABSTRACT:

Purpose

X-linked retinitis pigmentosa (XLRP) is a severely blinding retinal disease, most of which are due to mutations in retinitis pigmentosa GTPase regulator (RPGR). The patients with RPGR mutations exhibit severe retinal pigment epithelium (RPE) atrophy and photoreceptor degeneration. Previous research mainly focused on the role of RPGR in the connecting cilia of photoreceptors. However, the mechanism underlying RPE deficiency in patients remains unclear. Moreover, the function of RPGR in RPE cells has not been investigated.

Methods

To investigate the mechanisms underlying RPE atrophy and the role of RPGR in RPE cells, the rpgra-/- zebrafish, human RPE cell line RPE-1, and ARPE-19 were utilized. Histological analysis, immunofluorescence, and lipid staining were used to i

SUBMITTER: Ren M 

PROVIDER: S-EPMC12663888 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature