What are the Clinical Implications of Collagen Type I?
Mutations or defects in Collagen Type I can lead to various disorders, such as Osteogenesis Imperfecta, a genetic disorder characterized by brittle bones. Additionally, abnormalities in collagen synthesis or degradation are implicated in conditions like Ehlers-Danlos Syndrome, characterized by hyperelastic skin and joint hypermobility. Excessive collagen synthesis can lead to fibrosis, resulting in tissue stiffening and functional impairment.
