Single-Cell Transcriptomics on PRPF31-Mutated Retinal Organoids Reveal Early Muller Glial Activation and Progressive Photoreceptor Degeneration.

ABSTRACT: Background: Retinitis pigmentosa (RP) encompasses a group of inherited retinal disorders characterized by progressive degeneration of rod and cone photoreceptors, leading to vision loss. Among RP subtypes, RP11 is linked to mutations in PRPF31, a key spliceosome component, resulting in retinal cell dysfunction. Although PRPF31 is ubiquitously expressed, its mutations predominantly impact retinal cells, leading to the progressive loss of photoreceptors. Despite significant progress, studies have focused on photoreceptor and retinal pigment epithelium dysfunction in late disease stages, leaving early molecular events and the involvement of other retinal cell types unresolved. Moreover, comprehensive single-cell analyses capturing dynamic transcriptional changes across al

SUBMITTER: Bellapianta A 

PROVIDER: S-EPMC12837672 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature