{"id":612,"date":"2013-12-23T19:39:51","date_gmt":"2013-12-23T19:39:51","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=612"},"modified":"2026-02-25T19:54:24","modified_gmt":"2026-02-25T19:54:24","slug":"the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/","title":{"rendered":"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan)"},"content":{"rendered":"

Hypertrophic cardiomyopathy (HCM) is a significant cause of sudden unexpected cardiac death in any age group. Here we reported a Chinese family with maternally transmitted HCM and atrioventricular block (AVB). DNA sequencing analysis identified a novel homoplasmic 2336T>C mutation, which disturbs the 2336U-A2438 base pair in the stem-loop structure of mitochondrial 16S rRNA domain III. Functional and structural assays, including oxygen consumption rate, ATP synthesis, reactive oxidative species (ROS) production and electron microscopy, indicated that mitochondrial damages were present in the lymphoblastoid cells carrying 2336T>C mutation. Our findings provide a new insight in the pathogenesis of HCM. (http:\/\/jmg.bmj.com\/content\/early\/2013\/12\/23\/jmedgenet-2013-101818<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Hypertrophic cardiomyopathy (HCM) is a significant cause of sudden unexpected cardiac death in any age group. Here we reported a Chinese family with maternally transmitted HCM and atrioventricular block (AVB). DNA sequencing analysis identified a novel homoplasmic 2336T>C mutation, which disturbs the 2336U-A2438 base pair in the stem-loop structure of mitochondrial 16S rRNA domain III. […]<\/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-612","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nThe novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan) - 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\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Hypertrophic cardiomyopathy (HCM) is a significant cause of sudden unexpected cardiac death in any age group. Here we reported a Chinese family with maternally transmitted HCM and atrioventricular block (AVB). DNA sequencing analysis identified a novel homoplasmic 2336T>C mutation, which disturbs the 2336U-A2438 base pair in the stem-loop structure of mitochondrial 16S rRNA domain III. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-12-23T19:39:51+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:54:24+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\\\/2013\\\/12\\\/23\\\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/23\\\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan)\",\"datePublished\":\"2013-12-23T19:39:51+00:00\",\"dateModified\":\"2026-02-25T19:54:24+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/23\\\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/23\\\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/23\\\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/23\\\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\\\/\",\"name\":\"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2013-12-23T19:39:51+00:00\",\"dateModified\":\"2026-02-25T19:54:24+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/23\\\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/23\\\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/23\\\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan)\"}]},{\"@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":"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan) - 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\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/","og_locale":"en_US","og_type":"article","og_title":"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan) - JMG Contact blog","og_description":"Hypertrophic cardiomyopathy (HCM) is a significant cause of sudden unexpected cardiac death in any age group. Here we reported a Chinese family with maternally transmitted HCM and atrioventricular block (AVB). DNA sequencing analysis identified a novel homoplasmic 2336T>C mutation, which disturbs the 2336U-A2438 base pair in the stem-loop structure of mitochondrial 16S rRNA domain III. [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/","og_site_name":"JMG Contact blog","article_published_time":"2013-12-23T19:39:51+00:00","article_modified_time":"2026-02-25T19:54:24+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\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan)","datePublished":"2013-12-23T19:39:51+00:00","dateModified":"2026-02-25T19:54:24+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/"},"wordCount":128,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/","url":"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/","name":"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2013-12-23T19:39:51+00:00","dateModified":"2026-02-25T19:54:24+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/23\/the-novel-mitochondrial-16s-rrna-2336tc-mutation-is-associated-with-hypertrophic-cardiomyopathy\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (Contributed by Professor Qingfeng Yan)"}]},{"@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\/612","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=612"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/612\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=612"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=612"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=612"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}