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Título: | Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins |
Autor: | Valdés-Sánchez, María Lourdes; Calado, Sofia M. CSIC ORCID; Cerda, Berta de la CSIC ORCID; Aramburu del Boz, Ana CSIC; García-Delgado, Ana B. CSIC; Massalini, Simone CSIC; Montero-Sánchez, Adoración CSIC; Bhatia, Vaibhav CSIC ORCID; Rodríguez-Bocanegra, Eduardo CSIC; Díez-Lloret, Andrea CSIC; Rodriguez-Martinez, Daniel; Chakarova, Christina; Bhattacharya, Shom Shanker CSIC ORCID; Díaz-Corrales, Francisco J. CSIC ORCID | Palabras clave: | Hsp70 PRPF31 Retinal degeneration Retinal pigment epithelium Retinitis pigmentosa |
Fecha de publicación: | 31-dic-2019 | Editor: | BioMed Central | Citación: | Molecular Medicine 26: 1 (2020) | Resumen: | Background Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the pathophysiology of the disease. Methods In this study, we have analyzed a mouse model containing the p.A216P mutation in Prpf31 gene. Results We found that mutant Prpf31 protein produces cytoplasmic aggregates in the retinal pigment epithelium and decreasing the protein levels of this splicing factor in the nucleus. Additionally, normal protein was recruited in insoluble aggregates when the mutant protein was overexpressed in vitro. In response to protein aggregation, Hspa4l is overexpressed. This member of the HSP70 family of chaperones might contribute to the correct folding and solubilization of the mutant protein, allowing its translocation to the nucleus. Conclusions Our data suggests that a mechanism haploinsufficiency and dominant-negative is involved in retinal degeneration due to mutations in PRPF31. HSP70 over-expression might be a new therapeutic target for the treatment of retinal degeneration due to PRPF31 mutations. | Versión del editor: | http://dx.doi.org/10.1186/s10020-019-0124-z | URI: | http://hdl.handle.net/10261/205715 | DOI: | 10.1186/s10020-019-0124-z | Identificadores: | doi: 10.1186/s10020-019-0124-z e-issn: 1528-3658 issn: 1076-1551 |
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