Mutations in type I procollagen genes: An explanation for brittle bones and a paradigm for other diseases of connective tissue

Studies on brittle bone disease in children (osteogenesis imperfecta) have provided the surprising conclusion that most such children have mutations in one of the two genes that determine the structure of type I procollagen, the precursor of type I collagen. With minor exceptions the mutations change the primary structure of the protein and are not mutations that decrease expression of the gene. The devasting effects of the mutations are explained by the fact that they cause synthesis of a structurally abnormal but partially functional type I procollagen. The results raise the interesting possibility that more common diseases that affect connective tissues may be caused by mutations in the same or related genes for procollagens and collagens.

Mutations in type I procollagen genes: An explanation for brittle bones and a paradigm for other diseases of connective tissue Academic Article