PRPF31 gene therapy restores RNA splicing in retinitis pigmentosa cell models
Delivering PRPF31 with a viral vector restored RNA splicing in patient-derived models of retinitis pigmentosa type 11 and reversed the core cellular damage, according to a paper in Nature Communications. The models were retinal pigment epithelium cells and 3D retinal organoids. In the epithelium cells, gene transfer cleared toxic protein aggregates and restored waste clearance. Photoreceptors showed stronger light-evoked activity. Robust rescue held in mature cells too. Adding autophagy-activating drugs gave no extra benefit, which the authors read as a sign that restored splicing alone drives the recovery.
Because mature cells responded, the results support a broad clinical window for PRPF31 gene therapy in retinitis pigmentosa type 11.
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