Genetic collagen diseases: Influence of collagen mutations on structure and mechanical behavior

Abstract

Mutations in type I collagen as well as those in the enzymes involved in the processing of type I collagen and in proteins that associate with type I collagen have significant effects on the structure and mechanical properties of the collagen-containing tissues. Osteogenesis imperfecta, also known as brittle bone disease provides an illustration of how site-specific mutations and alterations can affect tissue integrity. Examples of other type I collagen diseases are also discussed. © 2008 Springer Science+Business Media, LLC.