On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies.

Détails

ID Serval
serval:BIB_AA42ABFEC4D0
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies.
Périodique
Investigative ophthalmology & visual science
Auteur(s)
Korvatska E., Munier F.L., Chaubert P., Wang M.X., Mashima Y., Yamada M., Uffer S., Zografos L., Schorderet D.F.
ISSN
0146-0404
Statut éditorial
Publié
Date de publication
1999
Peer-reviewed
Oui
Volume
40
Numéro
10
Pages
2213-9
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
PURPOSE: Recently, the authors identified a gene, BIGH3, in which different mutations cause a group of hereditary corneal dystrophies: lattice type I and IIIA (CDLI and CDLIIIA), granular Groenouw type I (CDGGI), Avellino (CDA), and Reis-Bücklers' (CDRB). All these disorders are characterized by the progressive accumulation of corneal deposits with different structural organization. Experiments were conducted to determine the role of kerato-epithelin (KE), the product of BIGH3, in the pathogenesis of the diseases. METHODS: KE-15 and KE-2, two rabbit antisera raised against peptides from the 69-364 and 426 - 682 amino acid regions of KE respectively, were used for immunohistology of the corneas obtained after keratoplasty in six CDLI patients, three CDGGI patients, and one CDA patient. RESULTS: The nonamyloid deposits observed in CDGGI stained intensively with KE-15 and KE-2, whereas the amyloid deposits in all analyzed CDLI corneas reacted to KE-2 but not to KE-15. In the CDA cornea, where amyloid and nonamyloid inclusions were present, positive staining with both antisera was observed. CONCLUSIONS: Pathologic amyloid and nonamyloid deposits observed in CDLI, CDGGI-, and CDA-affected corneas are caused by KE accumulation. Different staining patterns of amyloid and nonamyloid deposits observed with antibodies against the amino and carboxyl termini of KE suggest that two mechanisms of KE misfolding are implicated in the pathogenesis of 5q31-linked corneal dystrophies.
Mots-clé
Amyloid, Animals, Blotting, Western, Cells, Cultured, Chromosomes, Human, Pair 5, Cornea, Corneal Dystrophies, Hereditary, DNA Primers, Extracellular Matrix Proteins, Fibroblasts, Humans, Immunoenzyme Techniques, Keratoplasty, Penetrating, Linkage (Genetics), Mutation, Missense, Neoplasm Proteins, Peptide Fragments, Rabbits, Transforming Growth Factor beta
Pubmed
Web of science
Création de la notice
28/01/2008 12:58
Dernière modification de la notice
20/08/2019 15:14
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