Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

作者：Lieve Nuytinck, P Narcisi, Alan C. Nicholls, Jean‐Pierre Renard, F. MICHAEL POPE, Anne De Paepe · 发表于：Journal of Medical Genetics · 年份：1992 · DOI：10.1136/jmg.29.6.375 · 被引用次数：26 · 研究领域：Connective tissue disorders research、Fibroblast Growth Factor Research、Wnt/β-catenin signaling in development and cancer

The clinical and biochemical observations in a patient with a mild form of Ehlers-Danlos syndrome (EDS) type IV are described. The patient's skin fibroblasts produced markedly diminished amounts of type III collagen. SDS-polyacrylamide gel electrophoresis of collagens produced by cells obtained from other, non-cutaneous tissues showed two forms of collagen alpha 1(III) chains, a normal and a slow migrating, mutant form. Further analysis confirmed that the type III collagen molecules containing mutant alpha chains which were overmodified had a lower thermal stability and were poorly secreted into the extracellular medium. The protein defect was mapped by in situ cyanogen bromide digestion and was located in alpha 1(III) CB9, the C-terminal peptide of the collagen triple helix. This study shows that non-cutaneous connective tissues can be a useful source for the study of type III collagen defects in patients with EDS type IV.