A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal TelangiectasiaReportar como inadecuado




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Resumen

Wehave identified and characterized a spontaneousBrownNorwayfrom Janvier rat strain BN-J presenting a progressive retinal degenerationassociated with early retinal telangiectasia, neuronal alterations, and loss of retinalMu¨ller glial cells resembling human macular telangiectasiatype 2 MacTel 2, which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenotype results from an autosomalrecessive indel novel mutation in the Crb1 gene, causing dislocalization of the protein from the retinal Mu¨ller glia RMG-photoreceptor celljunction. The transcriptomic analyses of primaryRMGcultures allowed identification of the dysregulated pathways in BN-J rats compared withwild-type BN rats. Among those pathways, TGF- 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 linkingRMG-photoreceptor interaction with the development of retinal telangiectasia are identified. This model can help us to better understand thephysiopathologic mechanisms of MacTel 2 and other retinal diseases associated with telangiectasia.Nota general

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Autor: Zhao, Min; - Andrieu Soler, Charlotte; - Kowalczuk, Laura; - Cortés Burgos, María Paz; - Berdugo, Marianne; - Dernigoghossian,

Fuente: http://repositorio.uchile.cl/



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