Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.

Détails

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Etat: Public
Version: de l'auteur⸱e
ID Serval
serval:BIB_14A91F43470B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.
Périodique
American Journal of Human Genetics
Auteur⸱e⸱s
Casal M.L., Lewis J.R., Mauldin E.A., Tardivel A., Ingold K., Favre M., Paradies F., Demotz S., Gaide O., Schneider P.
ISSN
0002-9297 (Print)
ISSN-L
0002-9297
Statut éditorial
Publié
Date de publication
2007
Volume
81
Numéro
5
Pages
1050-1056
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
Patients with defective ectodysplasin A (EDA) are affected by X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized by sparse hair, inability to sweat, decreased lacrimation, frequent pulmonary infections, and missing and malformed teeth. The canine model of XLHED was used to study the developmental impact of EDA on secondary dentition, since dogs have an entirely brachyodont, diphyodont dentition similar to that in humans, as opposed to mice, which have only permanent teeth (monophyodont dentition), some of which are very different (aradicular hypsodont) than brachyodont human teeth. Also, clinical signs in humans and dogs with XLHED are virtually identical, whereas several are missing in the murine equivalent. In our model, the genetically missing EDA was compensated for by postnatal intravenous administration of soluble recombinant EDA. Untreated XLHED dogs have an incomplete set of conically shaped teeth similar to those seen in human patients with XLHED. After treatment with EDA, significant normalization of adult teeth was achieved in four of five XLHED dogs. Moreover, treatment restored normal lacrimation and resistance to eye and airway infections and improved sweating ability. These results not only provide proof of concept for a potential treatment of this orphan disease but also demonstrate an essential role of EDA in the development of secondary dentition.
Mots-clé
Animals, Animals, Newborn, Dentition, Disease Models, Animal, Dogs, Ectodermal Dysplasia/therapy, Ectodysplasins/administration & dosage, Ectodysplasins/pharmacology, Female, Genetic Diseases, X-Linked/therapy, Humans, Injections, Intravenous, Lacrimal Apparatus/drug effects, Lacrimal Apparatus/secretion, Male, Mandible/drug effects, Mandible/radiography, Mice, Mucociliary Clearance/drug effects, Recombinant Proteins/administration & dosage, Recombinant Proteins/pharmacology, Sweating/drug effects, Treatment Outcome
Pubmed
Web of science
Open Access
Oui
Création de la notice
19/01/2008 18:30
Dernière modification de la notice
20/08/2019 13:43
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