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.
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Superti-Furga, A., Steinmann, B., Ramirez, F. et al. Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Hum Genet 82, 104–108 (1989). https://doi.org/10.1007/BF00284038
- Internal Medicine
- Blood Vessel
- Metabolic Disease
- Amino Acid Substitution