Osteogenesis Imperfecta is a collagen disease. Collagen is a very important protein in the human body and it is found in many different parts of it. Specifically in bones, collagen is necessary so that the bones can endure the mechanical impact during physical activities. When collagen is abnormal, which is seen in Osteogenesis Imperfecta patients, bones are less strong and break easily. We have found that genetic errors in the gene KDELR2 lead to abnormal collagen fibrils in the patients. We are currently investigating this mechanism further.
KDELR2