A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium

In conclusion, we identified the first pathogenic mutation in MAPKAPK3 associated with a retinal disease. These findings shed new lights on Bruch's membrane/RPE pathophysiology and will open studies of this signaling pathway in diseases with RPE and Bruch's membrane alterations, such as age-related macular degeneration.

Source: Human Molecular Genetics - February 15, 2016 Category: Genetics & Stem Cells Authors: Meunier, I., Lenaers, G., Bocquet, B., Baudoin, C., Piro-Megy, C., Cubizolle, A., Quiles, M., Jean-Charles, A., Cohen, S. Y., Merle, H., Gaudric, A., Labesse, G., Manes, G., Pequignot, M., Cazevieille, C., Dhaenens, C.-M., Fichard, A., Ronkina, N., Arthur Tags: ARTICLES Source Type: research