A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia

Zhao, Min and Andrieu-Soler, Charlotte and Kowalczuk, Laura and Paz Cortés, María and Berdugo, Marianne and Dernigoghossian, Marilyn and Halili, Francisco and Jeanny, Jean-Claude and Goldenberg, Brigitte and Savoldelli, Michèle and El Sanharawi, Mohamed and Naud, Marie-Christine and van Ijcken, Wilfred and Pescini-Gobert, Rosanna and Martinet, Danielle and Maass, Alejandro and Wijnholds, Jan and Crisanti, Patricia and Rivolta, Carlo and Behar-Cohen, Francine. (2015) A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia. Journal of Neuroscience, 35 (15). pp. 6093-6106.

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Official URL: https://edoc.unibas.ch/81716/

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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.
Faculties and Departments:03 Faculty of Medicine
09 Associated Institutions > Institute of Molecular and Clinical Ophthalmology Basel (IOB)
UniBasel Contributors:Rivolta, Carlo
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Society for Neuroscience
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:12 Mar 2021 11:02
Deposited On:05 Mar 2021 09:54

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