{"id":12115,"date":"2021-09-01T10:47:12","date_gmt":"2021-09-01T08:47:12","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12115"},"modified":"2021-09-01T10:47:12","modified_gmt":"2021-09-01T08:47:12","slug":"gene-of-the-month-august-ttr","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-ttr\/","title":{"rendered":"Gene of the Month &#8211; August: TTR"},"content":{"rendered":"<p>Permanent and efficient inactivation of the <em>TTR<\/em> gene by genome editing is the aim of a novel therapeutic approach currently being investigated for the treatment of a rare congenital disease, transthyretin amyloidosis. Specifically, a CRISPR\/Cas9-based therapeutic agent is for the first time directly transferred into the human body, encapsulated in liposomes. Interim results of the phase I study performed by researchers in the United Kindom and New Zealand support the efficacy and safety of the agent, NTLA-2001.<\/p>\n<p>More than 100 different pathogenic variants in <em>TTR<\/em> are known to cause the hereditary form of ATTR amyloidosis. The genetic defect leads to misfolding of the encoded protein, transthyretin. The defective protein forms amyloid fibres and progressively accumulates in heart and nerve tissue, resulting in dysfunction of the affected organs. Transthyretin is almost exclusively produced in the liver. Therefore, the researchers aimed at knocking out the gene directly in the liver, so that the body will only produce a negligible amount of TTR protein. To achieve this, they packed the CRISPR\/Cas9 molecule with a guide RNA specifically targeting the <em>TTR<\/em> gene into liposomes and administered them by intravenous infusion. In the blood, these liposomes were naturally modified by certain proteins and were then directly taken up by liver cells via specific receptors. Six patients with hereditary transthyretin amyloidosis with polyneuropathy received a single injection of the agent either at a low or a slightly higher dose. After 28 days, all patients showed a decrease in TTR serum level, ranging from a mean reduction of 52 % (low dosage) to 87 % (higher dosage). No serious adverse events were reported.<\/p>\n<p>The results of the study sponsored by Intellia Therapeutics and Regeneron Pharmaceuticals have been published in <em>The New England Journal of Medicine<\/em>.<\/p>\n[vc_column_text] Gillmore JD, Gane E, Taubel J, \u2026 Lebwohl D. CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. <em>N Engl J Med.<\/em> 2021 Aug 5;385(6):493-502. doi: 10.1056\/NEJMoa2107454. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34215024&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Permanent and efficient inactivation of the TTR gene by genome editing is the aim of a novel therapeutic approach currently being investigated for the treatment of a rare congenital disease, transthyretin amyloidosis. Specifically, a CRISPR\/Cas9-based therapeutic agent is for the first time directly transferred into the human body, encapsulated in liposomes. Interim results of the [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-12115","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - August: TTR - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"In a phase-I study, researchers investigated a novel CRISPR\/Cas9-based therapeutic approach to treat hereditary transthyretin amyloidoisis by permanently and efficiently knocking out the TTR gene.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-ttr\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - August: TTR - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"In a phase-I study, researchers investigated a novel CRISPR\/Cas9-based therapeutic approach to treat hereditary transthyretin amyloidoisis by permanently and efficiently knocking out the TTR gene.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-ttr\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2021-09-01T08:47:12+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-ttr\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-ttr\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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