Collagen biosynthesis and isomorphism in a case of Ehlers-Danlos syndrome type VI.

Abstract

Collagen metabolism was studied in fibroblasts grown from a skin biopsy specimen of a patient who presented the striking clinical features of Ehlers-Danlos syndrome and, in particular, hyperextensibility of the skin, hypermobility of the joints, and kyphoscoliosis. A reduction in lysine hydroxylation, characteristic of Ehlers-Danlos Type VI, was observed after labelling of the collagen with 14C-proline and 3H-lysine. Other modifications in the collagen metabolism of fibroblast cultures were noted, including an increase in collagen and total protein synthesis, and an increase in both the Type I and Type III collagen. The percentage of Type III collagen was, however, lower than in the control fibroblasts. The results point out the complexity of collagen disturbances in Ehlers-Danlos Type VI.

• Authors: A Chamson, P Berbis, J F Fabre, Y Privat, J Frey
• Journal: Archives of dermatological research (Arch Dermatol Res) Vol. 279 Issue 5 Pg. 303-7 ( 1987) ISSN: 0340-3696 [Print] Germany
• PMID: 3115194 (Publication Type: Case Reports, Journal Article)

Chemical References

• Collagen
• Lysine

Topics

• Adult
• Cells, Cultured
• Collagen (classification, metabolism)
• Ehlers-Danlos Syndrome (classification, metabolism)
• Fibroblasts (metabolism)
• Humans
• Hydroxylation
• Kinetics
• Lysine (metabolism)
• Male
• Skin (metabolism)