Open AccessPatients with Ehlers-Danlos syndrome type IV lack type III collagen.
Author(s) -
Pope Fm,
Martin Gr,
Lichtenstein,
Risto Penttinen,
Benjamin Gerson,
Rowe Dw,
McKusick Va
Publication year - 1975
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.72.4.1314
Subject(s) - ehlers–danlos syndrome , type i collagen , collagen, type i, alpha 1 , aorta , pathology , chemistry , medicine , biochemistry , extracellular matrix
One of the genetically distinct collagens (type III) normally found in skin, aorta, and intestine is missing from the tissues of patients with the Ehlers-Danlos syndrome type IV. While skin fibroblasts from other individuals synthesize both types I and III collagen. Ehlers-Danlos syndrome IV cells synthesize only type I. These results suggest that the fragile skin, blood vessels, and intestines of Ehlers-Danlos syndrome IV patients result from an absence of type III collagen.