{"id":1007,"date":"2017-07-28T19:22:15","date_gmt":"2017-07-28T19:22:15","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1007"},"modified":"2026-02-24T21:03:44","modified_gmt":"2026-02-24T21:03:44","slug":"segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/07\/28\/segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders\/","title":{"rendered":"Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders (Contributed by Drs. Julie Steffann and Jean-Paul Bonnefont)"},"content":{"rendered":"<p>Mitochondrial cytopathies are genetic diseases, some of which result from mutations affecting part of the multiple DNA molecules located within mitochondria (mtDNA). Coexistence of mutant and wild-type mtDNA molecules is called \u201cheteroplasmy\u201d and defines a \u201cmutant load\u201d. Disease symptoms occur when the mutant load surpasses a tissue-specific threshold.<\/p>\n<p>Owing to the absence of therapy and the high recurrence risk for these serious diseases, at-risk couples commonly request a prenatal diagnosis, based on determination of the mutant load on a single chorionic villous sample (CVS). We have shown that this mutant load is widely heterogeneous within placentas, so that mutant load determined from CVS should be interpreted with caution and associated to\/substituted by a mutant load measurement on amniocytes. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/07\/27\/jmedgenet-2017-104615\">http:\/\/jmg.bmj.com\/content\/early\/2017\/07\/27\/jmedgenet-2017-104615<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mitochondrial cytopathies are genetic diseases, some of which result from mutations affecting part of the multiple DNA molecules located within mitochondria (mtDNA). Coexistence of mutant and wild-type mtDNA molecules is called \u201cheteroplasmy\u201d and defines a \u201cmutant load\u201d. Disease symptoms occur when the mutant load surpasses a tissue-specific threshold. Owing to the absence of therapy and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/07\/28\/segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders\/\">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-1007","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders (Contributed by Drs. Julie Steffann and Jean-Paul Bonnefont) - 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\/2017\/07\/28\/segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders (Contributed by Drs. Julie Steffann and Jean-Paul Bonnefont) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mitochondrial cytopathies are genetic diseases, some of which result from mutations affecting part of the multiple DNA molecules located within mitochondria (mtDNA). Coexistence of mutant and wild-type mtDNA molecules is called \u201cheteroplasmy\u201d and defines a \u201cmutant load\u201d. Disease symptoms occur when the mutant load surpasses a tissue-specific threshold. Owing to the absence of therapy and [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/07\/28\/segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-07-28T19:22:15+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:03:44+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\\\/2017\\\/07\\\/28\\\/segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/07\\\/28\\\/segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders (Contributed by Drs. 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