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

✍ Scribed by A. Chamson; P. Berbis; J. -F. Fabre; Y. Privat; J. Frey

• Publisher: Springer-Verlag
• Year: 1987
• Tongue: English
• Weight: 754 KB
• Volume: 279
• Category: Article
• ISSN: 0340-3696
• DOI: 10.1007/bf00431222

✦ Synopsis

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.