{"id":192,"date":"2011-08-31T18:38:34","date_gmt":"2011-08-31T18:38:34","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=192"},"modified":"2026-02-25T20:55:12","modified_gmt":"2026-02-25T20:55:12","slug":"mitochondrial-dna-polymerase-%ce%b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/08\/31\/mitochondrial-dna-polymerase-%ce%b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\/","title":{"rendered":"Mitochondrial DNA polymerase \u03b3 mutations: an ever expanding molecular and clinical spectrum (Contributed by Sha Tang)"},"content":{"rendered":"<p>Deficiency of DNA polymerase gamma can compromise mitochondrial DNA synthesis and has been implicated in a variety of complex autosomal recessive and autosomal dominant mitochondrial disorders, affecting both children and adults. We sequenced the exons and proximal intronic regions of the <em>POLG<\/em> gene from 2,697 independent patients and made definitive molecular diagnosis for 95 of them (3.5%). Analysis of this cohort identified 24 novel recessive mutations and 1 novel dominant mutation. The majority of <em>POLG<\/em> mutations are missense changes. Large intragenic deletions are extremely rare. The 92 patients with 2 mutant alleles exhibited a broad spectrum of clinical phenotypes. In conclusion, sequence analysis of the <em>POLG<\/em> gene should be considered as a part of routine screening for mitochondrial disorders. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/08\/31\/jmedgenet-2011-100222.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/08\/31\/jmedgenet-2011-100222.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Deficiency of DNA polymerase gamma can compromise mitochondrial DNA synthesis and has been implicated in a variety of complex autosomal recessive and autosomal dominant mitochondrial disorders, affecting both children and adults. We sequenced the exons and proximal intronic regions of the POLG gene from 2,697 independent patients and made definitive molecular diagnosis for 95 of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/08\/31\/mitochondrial-dna-polymerase-%ce%b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\/\">Read More&#8230;<\/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-192","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Mitochondrial DNA polymerase \u03b3 mutations: an ever expanding molecular and clinical spectrum (Contributed by Sha Tang) - 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\/2011\/08\/31\/mitochondrial-dna-polymerase-\u03b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mitochondrial DNA polymerase \u03b3 mutations: an ever expanding molecular and clinical spectrum (Contributed by Sha Tang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Deficiency of DNA polymerase gamma can compromise mitochondrial DNA synthesis and has been implicated in a variety of complex autosomal recessive and autosomal dominant mitochondrial disorders, affecting both children and adults. We sequenced the exons and proximal intronic regions of the POLG gene from 2,697 independent patients and made definitive molecular diagnosis for 95 of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/08\/31\/mitochondrial-dna-polymerase-\u03b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-08-31T18:38:34+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:55:12+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\\\/2011\\\/08\\\/31\\\/mitochondrial-dna-polymerase-%ce%b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/08\\\/31\\\/mitochondrial-dna-polymerase-%ce%b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Mitochondrial DNA polymerase \u03b3 mutations: an ever expanding molecular and clinical spectrum (Contributed by Sha Tang)\",\"datePublished\":\"2011-08-31T18:38:34+00:00\",\"dateModified\":\"2026-02-25T20:55:12+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/08\\\/31\\\/mitochondrial-dna-polymerase-%ce%b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\\\/\"},\"wordCount\":137,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/08\\\/31\\\/mitochondrial-dna-polymerase-%ce%b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/08\\\/31\\\/mitochondrial-dna-polymerase-%ce%b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/08\\\/31\\\/mitochondrial-dna-polymerase-%ce%b3-mutations-an-ever-expanding-molecular-and-clinical-spectrum\\\/\",\"name\":\"Mitochondrial DNA polymerase \u03b3 mutations: an ever expanding molecular and clinical spectrum (Contributed by Sha Tang) - 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