{"id":899,"date":"2016-06-21T19:15:35","date_gmt":"2016-06-21T19:15:35","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=899"},"modified":"2016-06-21T19:15:35","modified_gmt":"2016-06-21T19:15:35","slug":"gain-of-function-mutation-in-trpv4-identified-in-patients-with-osteonecrosis-of-the-femoral-head","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/06\/21\/gain-of-function-mutation-in-trpv4-identified-in-patients-with-osteonecrosis-of-the-femoral-head\/","title":{"rendered":"Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head"},"content":{"rendered":"<p>Osteonecrosis of the femoral head is a painful and debilitating bone disease that causes bone death at the hip leading to its collapse and subsequent end-stage osteoarthritis.\u00a0 The disease is poorly understood limiting treatment options to invasive surgical procedures such as total hip replacement. We have identified a Canadian family of Greek origin with osteonecrosis of the femoral head in four out of six siblings with no risk factors for the disease. Genetic analysis discovered a mutation of the <em>TRPV4<\/em> gene found only in the four affected siblings. Measurements of the mutant protein\u2019s function found that its activity was higher than the normal protein. TRPV4-associated phenotypes involve a large spectrum of skeletal dyscrasias and neuropathies. Our findings broaden the spectrum of phenotypes caused by <em>TRPV4 <\/em>mutations and highlight the relevance of this ion channel in the physiopathology of osteonecrosis. (By Dr Chantal S\u00e9guin, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/06\/21\/jmedgenet-2016-103829\">http:\/\/jmg.bmj.com\/content\/early\/2016\/06\/21\/jmedgenet-2016-103829<\/a> )<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/06\/SeguinC_WEB.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-900\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/06\/SeguinC_WEB.jpg\" alt=\"SeguinC_WEB\" width=\"200\" height=\"280\" \/><\/a><\/p>\n<p>Dr Chantal S\u00e9guin<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Osteonecrosis of the femoral head is a painful and debilitating bone disease that causes bone death at the hip leading to its collapse and subsequent end-stage osteoarthritis.\u00a0 The disease is poorly understood limiting treatment options to invasive surgical procedures such as total hip replacement. We have identified a Canadian family of Greek origin with osteonecrosis [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/06\/21\/gain-of-function-mutation-in-trpv4-identified-in-patients-with-osteonecrosis-of-the-femoral-head\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-899","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/899","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=899"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/899\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=899"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=899"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=899"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}