{"id":770,"date":"2015-06-17T18:41:08","date_gmt":"2015-06-17T18:41:08","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=770"},"modified":"2015-06-17T18:41:08","modified_gmt":"2015-06-17T18:41:08","slug":"rescue-of-primary-ubiquinone-deficiency-due-to-a-novel-coq7-defect-using-24-dihydroxybensoic-acid","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/06\/17\/rescue-of-primary-ubiquinone-deficiency-due-to-a-novel-coq7-defect-using-24-dihydroxybensoic-acid\/","title":{"rendered":"Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4\u2013dihydroxybensoic acid"},"content":{"rendered":"<p>Coenzyme Q (CoQ10) is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. A range of metabolic diseases, as well as the ageing process and prolonged statin treatments have been associated with CoQ10 deficiency. Here the first case of a primary CoQ10 defect due to a mutation in COQ7, necessary for CoQ10 biosynthesis, is presented. For accurate diagnosis a novel and highly sensitive method for CoQ10 quantification by UPLC &#8211; mass spectrometry was developed. By applying the COQ10 analogue, 2,4-dihydroxybenzoic acid, a potentially effective treatment strategy for CoQ10 deficiencies is introduced. (By Dr. Christoph Freyer, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/06\/16\/jmedgenet-2015-102986\">http:\/\/jmg.bmj.com\/content\/early\/2015\/06\/16\/jmedgenet-2015-102986<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Coenzyme Q (CoQ10) is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. A range of metabolic diseases, as well as the ageing process and prolonged statin treatments have been associated with CoQ10 deficiency. Here the first case of a primary CoQ10 defect due to a mutation [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/06\/17\/rescue-of-primary-ubiquinone-deficiency-due-to-a-novel-coq7-defect-using-24-dihydroxybensoic-acid\/\">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-770","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\/770","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=770"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/770\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=770"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=770"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=770"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}