{"id":1653,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=1653"},"modified":"2023-01-13T11:44:54","modified_gmt":"2023-01-13T11:44:54","slug":"sintomi-reversibili","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/sintomi-reversibili\/","title":{"rendered":"Sintomi reversibili nei topi"},"content":{"rendered":"<p><strong>Il Prof. Huda Zoghbi e altri (Baylor College of Medicine, Texas, USA) hanno pubblicato un articolo sulla rivista Nature dal titolo \"Reversible phenotype in mice using genetic rescue or antisense oligonucleotides\". L'articolo presenta i risultati dell'uso di oligonucleotidi antisenso (ASO) per correggere i livelli di MeCP2 e invertire i disturbi comportamentali, molecolari ed elettrofisiologici in un modello animale che presenta una duplicazione del gene MECP2.<\/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,&nbsp;<\/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>SOMMARIO DELL'ARTICOLO (Traduzione dall'inglese):<\/strong><\/p>\n\n\n\n<p>La variazione del numero di copie \u00e8 stata spesso associata a ritardi nello sviluppo, disabilit\u00e0 intellettiva e spettro autistico. La sindrome da duplicazione del gene MECP2 \u00e8 un riarrangiamento del genoma che colpisce soprattutto i maschi ed \u00e8 caratterizzata da spettro autistico, disabilit\u00e0 intellettiva, disfunzioni motorie, ansia, crisi epilettiche, infezioni respiratorie e morte precoce.<\/p>\n\n\n\n<p>L'ampia variet\u00e0 di deficit causati dalla sovraespressione della proteina MeCP2 rappresenta una sfida importante per gli approcci terapeutici tradizionali basati su percorsi biochimici. Abbiamo quindi studiato strategie terapeutiche che hanno come bersaglio diretto la proteina MeCP2 e che hanno il potenziale per essere tradotte in terapia clinica.<\/p>\n\n\n\n<p>La prima domanda che ci siamo posti \u00e8 se la disfunzione neurologica sia reversibile dopo la comparsa dei sintomi. L'inversione dei fenotipi nei topi adulti sintomatici \u00e8 stata dimostrata in alcuni modelli di perdita monogenica della funzione neurologica, in particolare la perdita di MeCP2 nella sindrome di Rett. Ci\u00f2 indica che, almeno in alcuni casi, la neuroanatomia pu\u00f2 rimanere sufficientemente intatta da consentire la correzione della disfunzione molecolare alla base di questi disturbi per ripristinare una fisiologia sana.<\/p>\n\n\n\n<p>Data l'assenza di neurodegenerazione nella sindrome da duplicazione di MECP2, riteniamo che il ripristino di livelli normali di MeCP2 nei topi adulti con duplicazione di MECP2 dovrebbe correggere il loro fenotipo.<\/p>\n\n\n\n<p>Generando e caratterizzando un modello di topo che sovraesprime Mecp2, dimostriamo che la correzione dei livelli di MeCP2 inverte ampiamente i deficit comportamentali, molecolari ed elettrofisiologici.<\/p>\n\n\n\n<p>Abbiamo anche ridotto MeCP2 utilizzando una strategia con oligonucleotidi antisenso, che ha un maggiore potenziale traslazionale.<\/p>\n\n\n\n<p>Gli oligonucleotidi antisenso sono piccoli acidi nucleici modificati che possono ibridarsi selettivamente con l'RNA messaggero trascritto da un gene bersaglio e silenziarlo, e sono stati utilizzati con successo per correggere le carenze in vari modelli murini.<\/p>\n\n\n\n<p>Abbiamo scoperto che gli oligonucleotidi antisenso inducono un ampio recupero del fenotipo nei topi transgenici adulti sintomatici con duplicazione di MECP2 e correggono i livelli di MeCP2, in modo dose-dipendente, nelle cellule linfoblastoidi di pazienti con duplicazione di MECP2.<\/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\">Vedere la pubblicazione<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Pr. Huda Zoghbi et al. (Baylor College of Medicine, Texas, USA) ont publi\u00e9 un article dans la revue Nature intitul\u00e9 \u00abPh\u00e9notype r\u00e9versible chez la souris par l\u2019utilisation de sauvetage g\u00e9n\u00e9tique [&hellip;]<\/p>","protected":false},"author":1,"featured_media":6890,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-1653","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Sympt\u00f4mes r\u00e9versibles chez la souris - 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\/sintomi-reversibili\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Sympt\u00f4mes r\u00e9versibles chez la souris - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Pr. Huda Zoghbi et al. 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