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A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia

Publication year 2015
Published in Journal of Neuroscience
Authors J. Wijnholds, Min Zhao, Charlotte Andrieu-Soler, Laura Kowalczuk, María Paz Cortés, Marianne Berdugo, Marilyn Dernigoghossian, Francisco Halili, Jean-Claude Jeanny, Brigitte Goldenberg, Michèle Savoldelli, Mohamed El Sanharawi, Marie-Christine Naud, Wilfred Fj van IJcken, Rosanna Pescini-Gobert, Danielle Martinet, Alejandro Maass, Patricia Crisanti, Carlo Rivolta, Francine Behar-Cohen,

We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal Müller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenotype results from an autosomal recessive indel novel mutation in the Crb1 gene, causing dislocalization of the protein from the retinal Müller glia (RMG)/photoreceptor cell junction. The transcriptomic analyses of primary RMG cultures allowed identification of the dysregulated pathways in BN-J rats compared with wild-type BN rats. Among those pathways, TGF-β and Kit Receptor Signaling, MAPK Cascade, Growth Factors and Inflammatory Pathways, G-Protein Signaling Pathways, Regulation of Actin Cytoskeleton, and Cardiovascular Signaling were found. Potential molecular targets linking RMG/photoreceptor interaction with the development of retinal telangiectasia are identified. This model can help us to better understand the physiopathologic mechanisms of MacTel 2 and other retinal diseases associated with telangiectasia.

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