A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia.
Details
Download: BIB_4583A5612DA1.P001.pdf (2215.95 [Ko])
State: Public
Version: Author's accepted manuscript
State: Public
Version: Author's accepted manuscript
Secondary document(s)
Download: 6093.full.pdf (4632.14 [Ko])
State: Public
Version: Final published version
State: Public
Version: Final published version
Serval ID
serval:BIB_4583A5612DA1
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia.
Journal
Journal of Neuroscience
ISSN
1529-2401 (Electronic)
ISSN-L
0270-6474
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
35
Number
15
Pages
6093-6106
Language
english
Notes
Publication types: Journal Article Publication Status: ppublish
Abstract
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.
Pubmed
Web of science
Create date
21/04/2015 9:58
Last modification date
20/08/2019 13:50