{"id":768,"date":"2015-06-12T19:04:39","date_gmt":"2015-06-12T19:04:39","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=768"},"modified":"2015-06-12T19:04:39","modified_gmt":"2015-06-12T19:04:39","slug":"combined-mineralocorticoid-and-glucocorticoid-deficiency-is-caused-by-a-novel-founder-nicotinamide-nucleotide-transhydrogenase-mutation-that-alters-mitochondrial-morphology-and-increases-oxidative-str","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/06\/12\/combined-mineralocorticoid-and-glucocorticoid-deficiency-is-caused-by-a-novel-founder-nicotinamide-nucleotide-transhydrogenase-mutation-that-alters-mitochondrial-morphology-and-increases-oxidative-str\/","title":{"rendered":"Combined Mineralocorticoid and Glucocorticoid deficiency is caused by a novel founder Nicotinamide Nucleotide Transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress"},"content":{"rendered":"<p>The novel and ancestral NNT mutation, p.G200S, which was identified in two unrelated consanguineous families, expands the glucocorticoid deficiency phenotype of <em>NNT<\/em> mutations to include also mineralocorticoid deficiency; and thus present in early life with severe salt loss, low blood pressure and hypoglycemia. We provide the first patient-based evidence that <em>NNT<\/em> mutations induce oxidative stress which result in morphological and functional mitochondrial defects \u2013 the energy producing factory in each cell. Thus, <em>NNT<\/em> is crucial for mitochondrial function in the human adrenal gland and <em>NNT<\/em> mutations should be considered in diagnosis of early life adrenal crisis. (By Dr. Ariella Weinberg-Shukron, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/06\/12\/jmedgenet-2015-103078\">http:\/\/jmg.bmj.com\/content\/early\/2015\/06\/12\/jmedgenet-2015-103078<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The novel and ancestral NNT mutation, p.G200S, which was identified in two unrelated consanguineous families, expands the glucocorticoid deficiency phenotype of NNT mutations to include also mineralocorticoid deficiency; and thus present in early life with severe salt loss, low blood pressure and hypoglycemia. We provide the first patient-based evidence that NNT mutations induce oxidative stress [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/06\/12\/combined-mineralocorticoid-and-glucocorticoid-deficiency-is-caused-by-a-novel-founder-nicotinamide-nucleotide-transhydrogenase-mutation-that-alters-mitochondrial-morphology-and-increases-oxidative-str\/\">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-768","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\/768","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=768"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/768\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=768"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=768"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=768"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}