RESEARCH HIGHLIGHT : CONE DEGENERATION IS TRIGGERED BY THE ABSENCE OF USH1 PROTEINS BUT PREVENTED BY ANTIOXIDANT TREATMENTS.

ENP group leader Serge Picaud and coll. generated in a unpigmented (albino) genetic background two different Ush1-deficient mutant mice that phenocopy the human inherited Usher Syndrome type 1 (USH1) blindness. Using the albino background that amplifies the level of light power on the retina, authors now uncovered molecular and morpho-functional retinal phenotype in both mouse Ush1-deficient models. Photoreceptors degeneration is prevented in housing under darkness conditions or under intake or diet supplementation using taurine, an anti-oxydant. Authors conclude for a contribution of oxidative stress induced by light exposure in the photoreceptor degeneration due to the absence of Usher1 proteins. Authors also suggest that oxidative stress could account for the high clinical heterogeneity (the progression rate of retinal degeneration) among human USH1 siblings and could indicate new leads for treatment. More info Trouillet A, Dubus E, Dégardin J, Estivalet A, Ivkovic I, Godefroy D, García-Ayuso D, Simonutti M, Sahly I, Sahel JA, El-Amraoui A, Petit C, Picaud S. Sci Rep. 2018 Jan 31;8(1):1968. doi: 10.1038/s41598-018-20171-0.