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

Autor: Patricia Crisanti, Carlo Rivolta, Marilyn Dernigoghossian, Rosanna Pescini-Gobert, Charlotte Andrieu-Soler, Alejandro Maass, Jean-Claude Jeanny, Min Zhao, Laura Kowalczuk, Marie-Christine Naud, Michèle Savoldelli, Wilfred F. J. van IJcken, Danielle Martinet, Francisco Halili, Francine Behar-Cohen, Jan Wijnholds, María Paz Cortés, Mohamed El Sanharawi, Marianne Berdugo, Brigitte Goldenberg
Přispěvatelé: Netherlands Institute for Neuroscience (NIN), Cell biology
Rok vydání: 2015
Předmět:
Retinal degeneration
Neurons/ultrastructure
Retinal Degeneration/genetics
Telangiectasis/complications
adherens junction
Photoreceptor cell
chemistry.chemical_compound
Visual Pathways/pathology
genetics
Fluorescein Angiography
Cells
Cultured
Macular telangiectasia
Neurons
Genetics
medicine.diagnostic_test
General Neuroscience
Age Factors
Articles
Glial Fibrillary Acidic Protein/metabolism
Retinal Vessels/pathology
Cell biology
Platelet Endothelial Cell Adhesion Molecule-1
Retinal telangiectasia
medicine.anatomical_structure
Ependymoglial Cells/pathology
Muller glia
Retinal Degeneration/etiology
Signal Transduction
Antigens
CD31/metabolism
Mutation/genetics
Eye Proteins/metabolism
Ependymoglial Cells
microcirculation
Visual Pathways/ultrastructure
Biology
Eye Proteins/genetics
retinal blood vessels
Rats
Mutant Strains
SDG 3 - Good Health and Well-being
Glial Fibrillary Acidic Protein
Electroretinography
medicine
Animals
Retinal Degeneration/pathology
Visual Pathways
Telangiectasis
Eye Proteins
Retinal Vessels/ultrastructure
Telangiectasis/genetics
Signal Transduction/physiology
Neurons/pathology
disease model
Retinal Vessels
Retinal
medicine.disease
Actin cytoskeleton
Rats
Disease Models
Animal
Animals
Newborn
nervous system
chemistry
Ependymoglial Cells/ultrastructure
Mutation
retinal degeneration
Ependymoglial Cells/metabolism
Zdroj: Journal of Neuroscience, 35(15), 6093-106. Society for Neuroscience
Journal of Neuroscience, 35(15), 6093-6106
Journal of Neuroscience
The Journal of Neuroscience
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Journal Of Neuroscience
Journal of Neuroscience, vol. 35, no. 15, pp. 6093-6106
Journal of Neuroscience, 35(15), 6093-6106. Society for Neuroscience
ISSN: 0270-6474
DOI: 10.5451/unibas-ep81716
Popis: 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 theCrb1gene, 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.
Databáze: OpenAIRE
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