{"id":9394,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T18:42:45","guid":{"rendered":"https:\/\/dupmecp2.eu\/reversal-of-phenotypes-in-mecp2-duplication-mice\/"},"modified":"2024-11-04T21:53:13","modified_gmt":"2024-11-04T20:53:13","slug":"umkehrung-von-phanotypen-in-mecp2-duplication-mice","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/de\/umkehrung-von-phanotypen-in-mecp2-duplication-mice\/","title":{"rendered":"Reversal of phenotypes in MECP2 duplication mice"},"content":{"rendered":"<p><strong>Prof. Huda Zoghbi et al (Baylor College of Medicine, Texas, USA) ver\u00f6ffentlichten einen Artikel in der Zeitschrift Nature mit dem Titel \"Reversible phenotype in mice using gene rescue or antisense oligonucleotides\". In diesem Artikel werden die Ergebnisse der Verwendung von Antisense-Oligonucleotiden zur Korrektur der MeCP2-Spiegel und zur Umkehrung von Verhaltensst\u00f6rungen, molekularen und elektrophysiologischen St\u00f6rungen in einem Tiermodell mit einer MECP2-Genduplikation vorgestellt.<\/strong><\/p>\n\n\n\n<p>Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides, Huda Zoghbi <em>et al,<\/em> <em>Natur<\/em><strong> 528, <\/strong>123-126 (2015)<\/p>\n\n\n\n<p><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n\n<p><strong>VER\u00d6FFENTLICHUNG ABSTRACT:<\/strong><\/p>\n\n\n\n<p>Kopienzahlvariationen wurden h\u00e4ufig mit Entwicklungsverz\u00f6gerungen, geistiger Behinderung und Autismus-Spektrum-St\u00f6rungen in Verbindung gebracht. Das MECP2-Duplikationssyndrom ist eine der h\u00e4ufigsten genomischen Umlagerungen bei M\u00e4nnern und wird durch Autismus, geistige Behinderung, motorische Dysfunktion, Angstzust\u00e4nde, Epilepsie, wiederkehrende Atemwegsinfektionen und fr\u00fchen Tod charakterisiert.<\/p>\n\n\n\n<p>The broad range of deficits caused by methyl-CpG-binding protein 2 (MeCP2) overexpression poses a daunting challenge to traditional biochemical-pathway-based therapeutic approaches. Accordingly, we sought strategies that directly target MeCP2 and are amenable to translation into clinical therapy.<\/p>\n\n\n\n<p>Die erste Frage, die wir beantworteten, war, ob die neurologische Funktionsst\u00f6rung nach dem Einsetzen der Symptome reversibel ist. Reversal of phenotypes in adult symptomatic mice has been demonstrated in some models of monogenic loss of function neurological disorders, including loss of MeCP2 in Rett syndrome, indicating that, at least in some cases, the neuroanatomy may remain sufficiently intact so that correction of the molecular dysfunction underlying these disorders can restore healthy physiology.<\/p>\n\n\n\n<p>Da beim MECP2-Duplikationssyndrom keine Neurodegeneration auftritt, schlagen wir vor, dass die Wiederherstellung normaler MeCP2-Werte bei erwachsenen MECP2-Duplikationsmaus ihren Ph\u00e4notyp wiederherstellen w\u00fcrde.<\/p>\n\n\n\n<p>By generating and characterizing a conditional Mecp2-overexpressing mouse model, here we show that correction of MeCP2 levels largely reverses the behavioural, molecular and electrophysiological deficits.<\/p>\n\n\n\n<p>We also reduced MeCP2 using an antisense oligonucleotide strategy, which has greater translational potential.<\/p>\n\n\n\n<p>Antisense-Oligonucleotide sind kleine, modifizierte Nukleins\u00e4uren, die selektiv mit messenger RNA, die von einem Zielgen transkribiert wurde, hybridisieren und diese zum Schweigen bringen k\u00f6nnen, und wurden erfolgreich zur Korrektur von Defiziten in verschiedenen Mausmodellen eingesetzt.<\/p>\n\n\n\n<p>We find that antisense oligonucleotide treatment induces a broad phenotypic rescue in adult symptomatic transgenic MECP2 duplication mice (MECP2-TG), and corrected MECP2 levels in lymphoblastoid cells from MECP2 duplication patients in a dose-dependent manner.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-fill\"><a class=\"wp-block-button__link has-white-color has-text-color has-background wp-element-button\" href=\"https:\/\/www.nature.com\/articles\/nature16159\" style=\"border-radius:14px;background-color:#f7a13f\" target=\"_blank\" rel=\"noreferrer noopener\">Zur Ver\u00f6ffentlichung<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Prof. Huda Zoghbi et al (Baylor College of Medicine, Texas, USA) published an article in the journal Nature entitled \u00ab\u00a0Reversible phenotype in mice using gene rescue or antisense oligonucleotides\u00a0\u00bb. This [&hellip;]<\/p>","protected":false},"author":1,"featured_media":4838,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[88],"tags":[],"class_list":["post-9394","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Reversal of phenotypes in MECP2 duplication mice - DupMECP2<\/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:\/\/dupmecp2.eu\/de\/umkehrung-von-phanotypen-in-mecp2-duplication-mice\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Reversal of phenotypes in MECP2 duplication mice - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Prof. Huda Zoghbi et al (Baylor College of Medicine, Texas, USA) published an article in the journal Nature entitled \u00ab\u00a0Reversible phenotype in mice using gene rescue or antisense oligonucleotides\u00a0\u00bb. 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