January 23, 2007
In the October 20 issue of journal Cell, NIDCR grantees and colleagues reported that mutations in the human CRTAP gene can cause osteogenesis imperfecta (OI), also called brittle bone disease. The article was extremely interesting because OI had been thought to be caused only by dominant mutations in type I collagen, the major protein of bone. But the researchers showed that mutations in the CRTAP gene cause a recessive form of OI that is characterized by low bone mass, bone fragility, and long-bone deformities. As they explained, the CRTAP gene encodes a protein involved in making needed post translational modifications to fibrillar forming proteins, key components of collagen. Now, in the December 28 issue of the New England Journal of Medicine, the scientists expand on their previous findings with an article that describes three children born with recessive OI that resulted in CRTAP protein deficiency.