{"id":77,"date":"2010-12-08T20:11:10","date_gmt":"2010-12-08T20:11:10","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=77"},"modified":"2026-02-22T00:46:29","modified_gmt":"2026-02-22T00:46:29","slug":"tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/","title":{"rendered":"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel)"},"content":{"rendered":"

Complex V of the respiratory chain (also termed ATP Synthase) is the final step in this process cellular energy production in the form of ATP molecules. TMEM70 gene defects were recently shown to cause ATP synthase deficiency in several patients of gypsy origin. In this study we describe six Israeli patients caused by four novel mutations in the TMEM70 gene. Their disease is highlighted by congenital hypertrophic cardiomypathy, severe life threatening episodes of lactic acidemia and variable degree of neurologic impairment. The disease is accompanied by significant infantile mortality and major morbidity in the survivors. The study confirms TMEM70 gene deleterious mutations as the most common cause of ATP synthase deficiency and suggests sequence analysis of this gene in patients with typical clinical features.\u00a0 (http:\/\/jmg.bmj.com\/content\/early\/2010\/12\/08\/jmg.2010.084608?papetoc=<\/a>)<\/p>\n","protected":false},"excerpt":{"rendered":"

Complex V of the respiratory chain (also termed ATP Synthase) is the final step in this process cellular energy production in the form of ATP molecules. TMEM70 gene defects were recently shown to cause ATP synthase deficiency in several patients of gypsy origin. In this study we describe six Israeli patients caused by four novel […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-77","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nTMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Complex V of the respiratory chain (also termed ATP Synthase) is the final step in this process cellular energy production in the form of ATP molecules. TMEM70 gene defects were recently shown to cause ATP synthase deficiency in several patients of gypsy origin. In this study we describe six Israeli patients caused by four novel [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2010-12-08T20:11:10+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:46:29+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/12\\\/08\\\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/12\\\/08\\\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel)\",\"datePublished\":\"2010-12-08T20:11:10+00:00\",\"dateModified\":\"2026-02-22T00:46:29+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/12\\\/08\\\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\\\/\"},\"wordCount\":156,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/12\\\/08\\\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/12\\\/08\\\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/12\\\/08\\\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\\\/\",\"name\":\"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2010-12-08T20:11:10+00:00\",\"dateModified\":\"2026-02-22T00:46:29+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/12\\\/08\\\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/12\\\/08\\\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/12\\\/08\\\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel) - JMG Contact blog","og_description":"Complex V of the respiratory chain (also termed ATP Synthase) is the final step in this process cellular energy production in the form of ATP molecules. TMEM70 gene defects were recently shown to cause ATP synthase deficiency in several patients of gypsy origin. In this study we describe six Israeli patients caused by four novel [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/","og_site_name":"JMG Contact blog","article_published_time":"2010-12-08T20:11:10+00:00","article_modified_time":"2026-02-22T00:46:29+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel)","datePublished":"2010-12-08T20:11:10+00:00","dateModified":"2026-02-22T00:46:29+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/"},"wordCount":156,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/","name":"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2010-12-08T20:11:10+00:00","dateModified":"2026-02-22T00:46:29+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2010\/12\/08\/tmem70-mutations-are-a-common-cause-of-nuclear-encoded-atp-synthase-assembly-defect-further-delineation-of-a-new-syndrome\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (Contributed by Dr. Ronen Spiegel)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/77","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=77"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/77\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=77"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=77"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=77"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}