Endoplasmic reticulum stress and rhodopsin accumulation in an organoid model of Retinitis Pigmentosa carrying a RHO pathogenic variant.

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Tác giả: Arnau Navinés-Ferrer, Esther Pomares

Ngôn ngữ: eng

Ký hiệu phân loại: 594.38 *Pulmonata

Thông tin xuất bản: England : Stem cell research & therapy , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 56226

BACKGROUND: Retinitis Pigmentosa (RP) is the most prevalent inherited retinal dystrophy, with more than 120 causative genes. Among them, RHO was the first photoreceptor gene described to harbor mutations responsible for RP. RHO pathogenic variants usually induce a dominant negative effect in which the accumulation of misfolded rhodopsin protein leads to ER stress, autophagy and lastly rod photoreceptor death. METHODS: We differentiated photoreceptor precursors and retinal organoids from an iPSC line of a patient carrying the Pro215Leu mutation in RHO gene. Both cell models were analyzed to determine their maturation, the expression and localization of RHO mRNA and the rhodopsin protein and the activation of autophagy or ER pathways. RESULTS: The Pro215Leu mutation causes rhodopsin accumulation in the soma of rod photoreceptor precursors along with a faster recycling by the proteasome. In both precursors and retinal organoids, we observed autophagy defects and late endoplasmic reticulum stress through CHOP increase. CONCLUSIONS: Unraveling the molecular pathophysiology of these mutations is key for understanding the basis of the disease and design proper gene and cell therapies for its treatment.
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