Scientists discover new genetic mutation linked to osteonecrosis of the femoral head -
Scientists at the Research Institute of the McGill University Health Centre (RI MUHC) have discovered a new genetic mutation linked to osteonecrosis of the hip, especially the femoral head - the ball-shaped mass in the upper part of the femur. This breakthrough could enable doctors to identify and treat the disease before symptoms appear and potentially prevent hip replacements.
osteonecrosis or "death of the bone" of the femoral head is a serious disease that is caused by the interruption of blood flow to the hip bone. Patients experience pain that illness progresses and the bone and surrounding joint collapse. ultimately, in osteoarthritis terminally ill, the patient becomes unable to walk and the hip joint must be replaced. "It's a very debilitating disease that is usually related to identifiable risk factors such as glucocorticoid treatment, blood cancers and in some rare cases, a genetic cause, "says Dr. Chantal Séguin, hematologist-oncologist at the bone engineering biology and vascular laboratory research the RI MUHC and lead author of the scientific paper published recently in the Journal of Medical Genetics .
Through the clinic established osteonecrosis of the MUHC Montreal General Hospital, led by Dr. Séguin and orthopedic surgeon Dr. Ed Harvey, the researchers diagnosed with osteonecrosis Advanced sibling 4 of 6 in a family of European origin. Their team has 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 the control of blood flow and the development of bone cells. Until this new discovery, only one other mutation has been identified in some families of Asian origin and the results have been limited potential for early diagnosis and new targeted therapy.
"The mutation was found to be common to all affected family members and absent in the affected family member, linking this new Mutation osteonecrosis" says Dr. Séguin. "Although it was known that pathogens TRPV4 mutations affected the skeleton and nervous system, this is the first time he has been associated with osteonecrosis of the femoral head."
Although the actual prevalence of the disease is unknown, as many as 30 000 new patients are diagnosed each year in the United States, and the incidence is increasing. Many patients are younger than 25 at diagnosis. The lack of knowledge surrounding osteonecrosis a significant financial burden on the Quebec and the Canadian health system.
"If we consider all Europeans and their distribution worldwide, it is likely that this mutation could be found in larger populations," says Dr. Séguin. "The identification of this new mutation will reveal the biological pathways that lead to disease, and aid in the development of new treatments that target the cause rather than the symptoms."
This new discovery could also help to better understand the biological mechanisms underlying the more common form of osteonecrosis of the femoral head, namely induced osteonecrosis glucocorticoid use, or more commonly, steroids. Glucocorticoids are a class of drugs used around the world as an anti-inflammatory agent, or as an important drug in many chemotherapy regimens used to treat patients with blood cancer. It is also well known that people who use steroids medicines for various diseases are also at risk, and it is estimated that over 60 million people are currently taking the drug worldwide.
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