{"id":7363,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T18:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/06\/14\/reversibler-phaenotyp-bei-maeusen\/"},"modified":"2022-11-13T13:19:33","modified_gmt":"2022-11-13T13:19:33","slug":"fenotipo-reversibile-bei-maeusen","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/fenotipo-reversibile-bei-maeusen\/","title":{"rendered":"Reversibler Ph\u00e4notyp bei M\u00e4usen"},"content":{"rendered":"<p><strong>Il Prof. Huda Zoghbi et al (Baylor College of Medicine, Texas, USA) hanno pubblicato un articolo sulla Zeitschrift Nature dal titolo \"Reversibler Ph\u00e4notyp bei M\u00e4usen durch die Verwendung von genetischer Rettung oder Antisense-Oligonukleotiden\". In diesem Artikel werden die Ergebnisse der Verwendung von Antisense-Oligonukleotiden (ASO) bei der Korrektur von MeCP2-Spiegeln und umgekehrt von Verhaltens-, molekularen und elektrophysiologischen St\u00f6rungen bei einem Tiermodell mit MeCP2-Genduplikation vorgestellt.<\/strong><\/p>\n\n\n\n<p>Inversione dei fenotipi nei topi con duplicazione di MECP2 mediante salvataggio genetico o oligonucleotidi antisenso, Huda Zoghbi <em>e altri,<\/em> <em>Natura<\/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>ZUSAMMENFASSUNG DES ARTIKELS: (\u00dcbersetzt aus dem Englischen):<\/strong><\/p>\n\n\n\n<p>Eine Variation der Kopienanzahl wurde h\u00e4ufig mit Entwicklungsverz\u00f6gerungen, geistiger Behinderung und Autismus in Verbindung. La sindrome MECP2-Genduplikation \u00e8 uno dei disturbi genomici pi\u00f9 comuni nei giovani ed \u00e8 caratterizzata da spettro autistico, grave disabilit\u00e0, disfunzioni motorie, disturbi d'ansia, crisi epilettiche, infezioni dell'ambiente e morte precoce.<\/p>\n\n\n\n<p>La grande gravit\u00e0 delle deficienze, che si verificano a causa dell'iperespressione delle proteine MeCP2, pone una grande sfida per le terapie terapeutiche, che si basano su criteri biochimici. Per questo motivo abbiamo studiato strategie terapeutiche che si basano direttamente sulla proteina MeCP2 e che hanno il potenziale per essere applicate in una terapia clinica.<\/p>\n\n\n\n<p>La prima domanda che ci siamo posti \u00e8 stata: se la disfunzione neurologica dopo la comparsa dei sintomi sia reversibile? Die Umkehrung von Ph\u00e4notypen bei symptom-behafteten erwachsenen M\u00e4usen wurde in einigen Modellen des monogenen Verlusts von neurologischen Funktionen nachgewiesen, insbesondere dem Verlust von MeCP2 beim Rett-Syndrom. Dies deutet darauf hin, dass zumindest in einigen F\u00e4llen die Neuroanatomie ausreichend intakt bleiben kann, so dass die Korrektur der diesen St\u00f6rungen zugrunde liegenden molekularen Dysfunktion, eine gesunde Physiologie wiederherstellen kann.<\/p>\n\n\n\n<p>In Anbetracht der Tatsache, dass beim MECP2-Duplikation Syndrom keine Neurodegeneration (Zerst\u00f6rung der Nervenzellen im Gehirn) auftritt, vermuten wir, dass die Wiederherstellung normaler MeCP2-Spiegel bei erwachsenen M\u00e4usen mit MECP2-Duplikation die Korrektur ihres Ph\u00e4notyp erm\u00f6glichen w\u00fcrde.<\/p>\n\n\n\n<p>Tramite l'analisi e la caratterizzazione di un modello di massa di MECP2-\u00fcberexprimierenden, si pu\u00f2 constatare che la funzione del MeCP2-Spiegel \u00e8 quella di ridurre il deficit nel corpo, sia dal punto di vista molecolare che da quello elettrofisiologico.<\/p>\n\n\n\n<p>Abbiamo ridotto il MeCP2 anche grazie alla strategia Antisense-Oligonukleotid (ASO), che ha un maggiore potenziale umorale.<\/p>\n\n\n\n<p>Gli Antisenso-Oligonukleotide sono piccole Nukleins\u00e4uren modificate, che si legano in modo selettivo con un Boten-RNA (mRNA) transkribierten di uno Ziel-Gen e che sono in grado di funzionare in modo stabile. Sono stati applicati in modo efficace per la correzione di deficit in diversi modelli di muscolo.<\/p>\n\n\n\n<p>Abbiamo dimostrato che l'Antisense-Oligonukleotide ha un effetto positivo sulla comparsa della fenotropia nei pazienti sintomatici, transgenici ed erwachsenen, con MECP2-Duplikation, e che il MECP2-Spiegel nei linfoblastoiden Zellen dei pazienti con MECP2-Duplikation \u00e8 stato ridotto al minimo.<\/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:10px;background-color:#f7a13f\">Pubblicazione ansehen<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Prof. Huda Zoghbi et al. (Baylor College of Medicine, Texas, USA) ver\u00f6ffentlichen in der Zeitschrift Nature einen Artikel mit dem Titel \u00ab\u00a0Reversibler Ph\u00e4notyp bei M\u00e4usen durch die Verwendung von genetischer [&hellip;]<\/p>","protected":false},"author":1,"featured_media":6891,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[58],"tags":[],"class_list":["post-7363","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publikationen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Reversibler Ph\u00e4notyp bei M\u00e4usen - 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\/it\/fenotipo-reversibile-bei-maeusen\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Reversibler Ph\u00e4notyp bei M\u00e4usen - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Prof. Huda Zoghbi et al. (Baylor College of Medicine, Texas, USA) ver\u00f6ffentlichen in der Zeitschrift Nature einen Artikel mit dem Titel \u00ab\u00a0Reversibler Ph\u00e4notyp bei M\u00e4usen durch die Verwendung von genetischer [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dupmecp2.eu\/it\/fenotipo-reversibile-bei-maeusen\/?lang=de\" \/>\n<meta property=\"og:site_name\" content=\"DupMECP2\" \/>\n<meta property=\"article:published_time\" content=\"2022-06-14T18:42:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-11-13T13:19:33+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/06\/Zoghbi-2015.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"900\" \/>\n\t<meta property=\"og:image:height\" content=\"600\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Caroline\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Scritto da\" \/>\n\t<meta name=\"twitter:data1\" content=\"Caroline\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tempo di lettura stimato\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minuti\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/dupmecp2.eu\/reversibler-phaenotyp-bei-maeusen\/?lang=de#article\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/reversibler-phaenotyp-bei-maeusen\/?lang=de\"},\"author\":{\"name\":\"Caroline\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/b41e8cbba153cd974ee340386af279ee\"},\"headline\":\"Reversibler Ph\u00e4notyp bei M\u00e4usen\",\"datePublished\":\"2022-06-14T18:42:45+00:00\",\"dateModified\":\"2022-11-13T13:19:33+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/reversibler-phaenotyp-bei-maeusen\/?lang=de\"},\"wordCount\":452,\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/reversibler-phaenotyp-bei-maeusen\/?lang=de#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/06\/Zoghbi-2015.jpg\",\"articleSection\":[\"Publikationen\"],\"inLanguage\":\"it-IT\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/dupmecp2.eu\/reversibler-phaenotyp-bei-maeusen\/?lang=de\",\"url\":\"https:\/\/dupmecp2.eu\/reversibler-phaenotyp-bei-maeusen\/?lang=de\",\"name\":\"Reversibler Ph\u00e4notyp bei M\u00e4usen - 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