Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome.

Abstract excerpt

To examine mechanisms by which reduced type V collagen causes weakened connective tissues in the Ehlers-Danlos syndrome (EDS), we examined matrix deposition and collagen fibril morphology in long-term dermal fibroblast cultures. EDS cells with COL5A1 haplo-insufficiency deposited less than one-half of hydroxyproline as collagen compared to control fibroblasts, though total collagen synthesis rates are near-normal...

Topics

• Cell Culture Techniques
• Collagen Type I
• Collagen Type V
• Ehlers-Danlos Syndrome
• Fibroblasts
• Genotype
• Humans
• Phenotype