Mechano-adaptation in Osteogenesis Imperfecta

Funded by:
Canadian Institute of Health Research (CIHR)

Abstract:
Osteogenesis imperfecta is a rare disorder that results in frequent fractures and often requires orthopedic interventions. Our clinical studies show that the periosteal circumference is consistently low in children with osteogenesis imperfecta. A lack of bone formation at the outer surface of the bone is a key factor in long-bone fractures, but the causes of this deficiency have not been investigated. Since bone is highly responsive to mechanical loads, our overarching hypothesis is that genetic defects that lead to osteogenesis imperfecta may also lead to a lower than normal response to mechanical loading in the long-bone of individuals with this disease. We will investigate whether this disorder leads to an altered periosteal bone formation response to mechanical loading using mouse models of this disease.