Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

Détails

ID Serval
serval:BIB_7AD2A17928F9
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.
Périodique
Human Genetics
Auteur(s)
Superti-Furga A., Steinmann B., Ramirez F., Byers P.H.
ISSN
0340-6717 (Print)
ISSN-L
0340-6717
Statut éditorial
Publié
Date de publication
1989
Volume
82
Numéro
2
Pages
104-108
Langue
anglais
Résumé
Fibroblasts from most patients with Ehlers-Danlos syndrome (EDS) type IV, a disorder characterized by fragility of skin, blood vessels, and internal organs, secrete reduced amounts of type III procollagen. In 7 of 8 cell strains analyzed, we found evidence of structural defects in half of the type III procollagen chains synthesized, such as deletions or bona fide amino acid substitutions, which cause delayed formation and destabilization of the collagen triple helix and, as a consequence, reduced secretion of the molecule. The data suggest that EDS type IV is often caused by heterozygosity for mutations at the COL3A1 locus, which affect the structure of type III procollagen. The triple-helical region of the molecule, like the homologous region of type I procollagen, appears to be particularly vulnerable.
Mots-clé
DNA/analysis, Ehlers-Danlos Syndrome/genetics, Electrophoresis, Polyacrylamide Gel, Fibroblasts/analysis, Humans, Molecular Structure, Mutation, Procollagen/analysis, Procollagen/genetics, RNA, Messenger/analysis
Pubmed
Web of science
Création de la notice
14/03/2011 17:14
Dernière modification de la notice
20/08/2019 15:36
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