What are Some Disorders Associated with Type I Collagen?
Mutations or defects in the genes encoding type I collagen can lead to several connective tissue disorders: - Osteogenesis Imperfecta: Also known as brittle bone disease, it results in fragile bones that break easily. - Ehlers-Danlos Syndrome: A group of disorders characterized by hyperelastic skin, joint hypermobility, and tissue fragility. - Scleroderma: An autoimmune disorder that results in excessive deposition of collagen, leading to skin hardening and organ fibrosis.