{"id":365,"date":"2012-09-12T04:14:57","date_gmt":"2012-09-12T04:14:57","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=365"},"modified":"2012-09-12T04:14:57","modified_gmt":"2012-09-12T04:14:57","slug":"complex-i-deficiency-clinical-features-biochemistry-and-molecular-genetics","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/09\/12\/complex-i-deficiency-clinical-features-biochemistry-and-molecular-genetics\/","title":{"rendered":"Complex I deficiency: clinical features, biochemistry and molecular genetics"},"content":{"rendered":"<p>The challenges of genetically diagnosing complex I deficiency, the most common cause of childhood-onset mitochondrial disease, are not only due to the very broad spectrum of clinical presentations, but also because of the large number of potential disease-causing genes.<br \/>\nThis review discusses the structure and function of complex I in light of recent X-ray crystallographic findings; the currently accepted model of complex I assembly; clinical phenotypes and genetic causes of complex I deficiency; genotype:phenotype correlations informed by a systematic review of all 172 patients with nuclear-encoded complex I deficiency reported to date; mouse models; and approaches to treatment.<br \/>\nTimely diagnosis can be extremely challenging, but has considerable implications in terms of treatment and genetic counselling. Clinical and radiological clues to diagnosis are highlighted, together with genotype:phenotype correlations where they exist, and a diagnostic flowchart is presented which may facilitate more rapid diagnosis of future cases. (By Shamima Rahman FRCP FRCPCH PhD, <a href=\"http:\/\/jmg.bmj.com\/content\/49\/9\/578\">http:\/\/jmg.bmj.com\/content\/49\/9\/578<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The challenges of genetically diagnosing complex I deficiency, the most common cause of childhood-onset mitochondrial disease, are not only due to the very broad spectrum of clinical presentations, but also because of the large number of potential disease-causing genes. This review discusses the structure and function of complex I in light of recent X-ray crystallographic [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/09\/12\/complex-i-deficiency-clinical-features-biochemistry-and-molecular-genetics\/\">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-365","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\/365","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=365"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/365\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=365"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=365"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=365"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}