Thank Goodness For MUHC And The Research They Are Doing for AVN/ON

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.
https://www.mcgill.ca/orthopaedics/specialties/trauma
http://publications.mcgill.ca/reporter/2016/07/breakthrough-could-reduce-hip-replacements/
#Osteonecrosis 

#AvascularNecrosis 

#Science

#Genetics 

#MUHC

Published by ChronicallyGratefulDebla

The body always knows what to do to heal itself. The challenge is listening and doing what your body needs. I was diagnosed with Osteoarthritis in 2012, Avascular Necrosis aka Osteonecrosis in my knee in 2014 and Factor V Leiden hetero, and Spondylolisthesis 2016 Health Advocate-Health Activist-World Changer Love photography, cooking, hiking, walking ,traveling and learning to live a new normal since my diagnosis. My Links Facebook Main Profile https://www.facebook.com/debbie.briglovichandio Main Blog www.ChronicallyGratefulDebla.com Twitter - https://twitter.com/debbiea001 Instagram - https://www.instagram.com/debbiea_1962 and https://www.instagram.com/chronicallygratefulme Support Group Avascular Necrosis/Osteonecrosis Support Int’l https://m.facebook.com/groups/DeadBoneDiseaseAvn Awareness for Avascular Necrosis & Other Conditions of The Bone and Joints https://www.facebook.com/AvascularNecrosisAndBoneDiseaseAwareness/ Avascular Necrosis Awareness Day November 29 – working with elected officials to get this recognized in all states https://www.facebook.com/AwarenessByDebla/ Avascular Necrosis-Osteonecrosis Knowledge and Education https://www.facebook.com/AvascularNecrosisEducation/ Facebook Link https://m.facebook.com/ChronicallyGrateful.Me/

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