Breakthrough could reduce hip replacementsPosted on Friday, July 22, 2016
hip-replacementResearchers discover new genetic mutation linked to osteonecrosis of the hip
By MUHC Public Affairs
Scientists at the Research Institute of McGill University Health Centre (RI-MUHC) have discovered a new genetic mutation linked to osteonecrosis of the hip, specifically the femoral head – the spherical-shaped mass at the top of the femur. This breakthrough could allow doctors to identify and treat the disease before symptoms arise and potentially avoid hip replacements.
Osteonecrosis or “bone death” of the femoral head is a serious disease that is caused by interruption of blood flow in the hip bone. Patients experience pain as the disease progresses and the bone and surrounding joint collapse. Ultimately, in end-stage osteoarthritis, the patient becomes unable to walk and the hip joint must be replaced. “It is a severely debilitating disease that is usually linked to identifiable risk factors such as glucocorticoid treatments, blood cancers and in some rare cases, to a genetic cause,” explains Dr. Chantal Séguin, Hematologist-oncologist at the Bone Engineering and Vascular Biology Research Lab of the RI-MUHC, and senior author on the scientific paper published recently in the Journal of Medical Genetics.
Through the specialized Osteonecrosis Clinic established at the MUHC’s Montreal General Hospital, led by Dr. Séguin and orthopedic surgeon Dr. Ed Harvey, the researchers diagnosed advanced osteonecrosis in 4 out of 6 siblings in a family of European descent. Their team discovered a novel genetic mutation on a gene called TRPV4 (transient receptor potential vanilloid 4). The TRPV4 gene is known to play a critical role in blood flow control and bone cell development. Until this new discovery, only one other mutation had been identified in a few families of Asian descent and the findings have had limited potential for early diagnosis and new targeted therapy.