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A new hope for a therapy against retinitis pigmentosa

June 17, 2022 | Université de Genève




Journal Reference

  1. Olivier Mercey, Corinne Kostic, Eloïse Bertiaux, Alexia Giroud, Yashar Sadian, David C. A. Gaboriau, Ciaran G. Morrison, Ning Chang, Yvan Arsenijevic, Paul Guichard, Virginie Hamel. The connecting cilium inner scaffold provides a structural foundation that protects against retinal degeneration. PLOS Biology, 2022; 20 (6): e3001649 DOI: 10.1371/journal.pbio.3001649

Summary

Retinitis pigmentosa, a degenerative genetic disease of the eye, is characterized by progressive vision loss, usually leading to blindness. In some patients, structural defects in the photoreceptor cells have been observed, but the molecular mechanisms involved are not understood. A team has identified the essential role played by a molecular zipper formed by four proteins. The absence of this zipper leads to cell death in retinal cells. This discovery could lead to the development of therapeutic approaches for retinitis pigmentosa.


Article

Retinitis pigmentosa, a degenerative genetic disease of the eye, is characterized by progressive vision loss, usually leading to blindness. In some patients, structural defects in the photoreceptor cells have been observed, but the molecular mechanisms involved are not understood. A team from the University of Geneva (UNIGE), in collaboration with the University of Lausanne (UNIL), has identified the essential role played by a molecular zipper formed by four proteins. The absence of this zipper leads to cell death in retinal cells. This discovery could lead to the development of therapeutic approaches for retinitis pigmentosa. This work can be read in the journal PLOS Biology.


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