{"id":22181,"date":"2017-10-11T19:54:13","date_gmt":"2017-10-11T14:24:13","guid":{"rendered":"https:\/\/cardiophile.org\/?p=22181"},"modified":"2022-12-02T08:04:31","modified_gmt":"2022-12-02T02:34:31","slug":"hypertrophic-cardiomyopathy-mutation-corrected-in-embryo","status":"publish","type":"post","link":"https:\/\/johnsonfrancis.org\/professional\/hypertrophic-cardiomyopathy-mutation-corrected-in-embryo\/","title":{"rendered":"Hypertrophic cardiomyopathy mutation corrected in embryo"},"content":{"rendered":"<p><iframe loading=\"lazy\" width=\"560\" height=\"315\" src=\"https:\/\/www.youtube.com\/embed\/CSqVB2I_lTA\" title=\"YouTube video player\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture\" allowfullscreen=\"\"><\/iframe><\/p>\n<h2><span style=\"color: #008000;\">Hypertrophic cardiomyopathy mutation corrected in embryo<\/span><\/h2>\n<p>In a pathbreaking proof of concept experimental study, <em>MYBPC3<\/em> gene mutation causing hypertrophic cardiomyopathy was corrected in human embryos using CRISPR-Cas9 gene editing technique. Study published in <em>Nature&nbsp;<\/em>[1] from Oregon Health &amp; Science University,&nbsp; Portland, USA showed successful repair of the defective gene by cutting off the mutant sequence using CRISPR\u2013Cas9. Embryos which were heterozygous for the mutation repaired the DNA break using the normal copy from the other parent.<\/p>\n<p>There were no off target mutations induced in the process. As always, ethical issues have to be addressed on whether heritable germline editing can be used to prevent diseases, though editing of somatic cells for treatment of a disease may not raise much of ethical issues. Moreover, this is only a proof of concept experimental study. Successful translation to regular offspring devoid of the pathogenic mutation as well as no new off target mutation is still a long way off.<\/p>\n<p><span style=\"color: #0000ff;\"><strong>Reference<\/strong><\/span><\/p>\n<ol>\n<li>Ma H, Marti-Gutierrez N, Park SW, Wu J, Lee Y, Suzuki K, Koski A, Ji D, Hayama T, Ahmed R, Darby H, Van Dyken C, Li Y, Kang E, Park AR, Kim D, Kim ST, Gong J, Gu Y7, Xu X, Battaglia D, Krieg SA, Lee DM, Wu DH, Wolf DP, Heitner SB, Belmonte JC, Amato P, Kim JS, Kaul S, Mitalipov S. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28783728\">Correction of a pathogenic gene mutation in human embryos<\/a>. Nature. 2017; 548, 413\u2013419.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>Hypertrophic cardiomyopathy mutation corrected in embryo In a pathbreaking proof of concept experimental study, MYBPC3 gene mutation causing hypertrophic cardiomyopathy was corrected in human embryos using CRISPR-Cas9 gene editing technique. Study published in Nature&nbsp;[1] from Oregon Health &amp; Science University,&nbsp; Portland, USA showed successful repair of the defective gene by cutting off the mutant sequence [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":33397,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"nf_dc_page":"","footnotes":""},"categories":[2],"tags":[663,974,1572,1573,1753,2515],"class_list":["post-22181","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cardiology","tag-cardiovascular-magenetic-resonance-imaging","tag-crispr-cas9","tag-gene-editing-technique","tag-gene-repair","tag-hypertrophic-cardiomyopathy","tag-mybpc3"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Hypertrophic cardiomyopathy mutation corrected in embryo<\/title>\n<meta name=\"description\" content=\"Hypertrophic cardiomyopathy mutation corrected in embryo: MYBPC3 gene mutation has been corrected in human embryos using\u00a0CRISPR-Cas9 gene editing.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/johnsonfrancis.org\/professional\/hypertrophic-cardiomyopathy-mutation-corrected-in-embryo\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Hypertrophic cardiomyopathy mutation corrected in embryo\" \/>\n<meta property=\"og:description\" content=\"Hypertrophic cardiomyopathy mutation corrected in embryo: MYBPC3 gene mutation has been corrected in human embryos using\u00a0CRISPR-Cas9 gene editing.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/johnsonfrancis.org\/professional\/hypertrophic-cardiomyopathy-mutation-corrected-in-embryo\/\" \/>\n<meta property=\"og:site_name\" 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