Genetic mutation linked to osteonecrosis of the hip discovered

18 July 2016

Researchers have identified a new genetic mutation linked to osteonecrosis of the hip that could make it easier to preemptively treat the condition.

A team from the Research Institute of McGill University Health Centre have found that a mutation on a gene called TRPV4, which is known to play a critical role in blood flow control and bone cell development, can be commonly found in people with the disease.

Also known as bone death, osteonecrosis of the femoral head is caused by interruption of blood flow in the hip bone, resulting in painful damage to the bone and surrounding joint, and eventually impairing movement unless the hip joint is replaced.

This discovery could make it easier in future for doctors to identify and treat the disease before symptoms arise, meaning patients could potentially avoid hip replacements.

Dr Chantal Seguin, haematologist-oncologist at the university's Bone Engineering and Vascular Biology Research Lab, said: "The identification of this novel mutation will help to reveal the biological pathways that lead to the disease and aid in the development of new treatments that target its cause rather than its symptoms."

Posted by Jeanette Royston


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