{"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":"symptomes-reversibles","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/symptomes-reversibles\/","title":{"rendered":"S\u00edntomas reversibles en ratones"},"content":{"rendered":"<p><strong>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 ou oligonucl\u00e9otides antisens&nbsp;\u00bb. Cet article pr\u00e9sente les r\u00e9sultats de l\u2019utilisation des oligonucl\u00e9otides antisens (ASO) dans la correction des niveaux de MeCP2 et l&rsquo;inversement des troubles comportementaux, mol\u00e9culaires et \u00e9lectrophysiologiques chez un mod\u00e8le animal pr\u00e9sentant une duplication du g\u00e8ne MECP2.<\/strong><\/p>\n\n\n\n<p>Reversi\u00f3n de fenotipos en ratones con duplicaci\u00f3n de MECP2 mediante rescate gen\u00e9tico u oligonucle\u00f3tidos antisentido, Huda Zoghbi <em>et al,<\/em> <em>Naturaleza<\/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>RESUM\u00c9&nbsp;DE L&rsquo;ARTICLE (Traduit de l&rsquo;anglais):<\/strong><\/p>\n\n\n\n<p>Une variation du nombre de copie a fr\u00e9quemment \u00e9t\u00e9 associ\u00e9e avec un retard de d\u00e9veloppement, une d\u00e9ficience intellectuelle et un spectre autistique. Le syndrome de la duplication du g\u00e8ne MECP2 est un un r\u00e9arrangement du g\u00e9nome touchant essentiellement les personnes de sexe masculin et est caract\u00e9ris\u00e9 par un spectre autistique, une d\u00e9ficience intellectuelle, un dysfonctionnement moteur, de l\u2019anxi\u00e9t\u00e9, des crises d\u2019\u00e9pilepsie, des infections du syst\u00e8me respiratoire et une mort pr\u00e9coce.<\/p>\n\n\n\n<p>La grande vari\u00e9t\u00e9 des d\u00e9ficits caus\u00e9s par la surexpression de la prot\u00e9ine MeCP2 constitue un d\u00e9fi de taille pour les approches th\u00e9rapeutiques traditionnelles bas\u00e9es sur les voies biochimiques. Par cons\u00e9quent, nous avons \u00e9tudi\u00e9 des strat\u00e9gies th\u00e9rapeutiques qui ciblent directement la prot\u00e9ine MeCP2 et sont susceptibles d\u2019\u00eatre transpos\u00e9es en th\u00e9rapie clinique.<\/p>\n\n\n\n<p>La premi\u00e8re question que nous avons abord\u00e9e \u00e9tait de savoir si le dysfonctionnement neurologique est r\u00e9versible apr\u00e8s l&rsquo;apparition des sympt\u00f4mes. L&rsquo;inversion des ph\u00e9notypes chez les souris adultes symptomatiques a \u00e9t\u00e9 d\u00e9montr\u00e9e dans certains mod\u00e8les de perte monog\u00e9nique de fonctions neurologiques, notamment la perte de MeCP2 dans le syndrome de Rett. Ceci indique que, au moins dans certains cas, la neuroanatomie peut rester suffisamment intacte pour que la correction du dysfonctionnement mol\u00e9culaire sous-jacent \u00e0 ces troubles puisse r\u00e9tablir une physiologie saine.<\/p>\n\n\n\n<p>\u00c9tant donn\u00e9 l&rsquo;absence de neurod\u00e9g\u00e9n\u00e9rescence dans le syndrome de duplication de MECP2, nous pensons que la restauration de niveaux normaux de MeCP2 chez les souris adultes pr\u00e9sentant une duplication de MECP2 devrait permettre de corriger leur ph\u00e9notype.<\/p>\n\n\n\n<p>En g\u00e9n\u00e9rant et en caract\u00e9risant un mod\u00e8le de souris surexprimant Mecp2, nous montrons ici que la correction des niveaux de MeCP2 inverse largement les d\u00e9ficits comportementaux, mol\u00e9culaires et \u00e9lectrophysiologiques.<\/p>\n\n\n\n<p>Nous avons \u00e9galement r\u00e9duit MeCP2 en utilisant une strat\u00e9gie d&rsquo;oligonucl\u00e9otide antisens, qui a un plus grand potentiel de traduction.<\/p>\n\n\n\n<p>Les oligonucl\u00e9otides antisens sont de petits acides nucl\u00e9iques modifi\u00e9s qui peuvent s&rsquo;hybrider de mani\u00e8re s\u00e9lective avec l&rsquo;ARN messager transcrit \u00e0 partir d&rsquo;un g\u00e8ne cible et le rendre silencieux et ont \u00e9t\u00e9 utilis\u00e9s avec succ\u00e8s pour corriger des d\u00e9ficits dans diff\u00e9rents mod\u00e8les de souris.<\/p>\n\n\n\n<p>Nous constatons que les oligonucl\u00e9otides antisens induisent un large r\u00e9tablissement du ph\u00e9notype chez les souris symptomatiques transg\u00e9niques adultes ayant une duplication de MECP2 et corrige les niveaux de MeCP2, de mani\u00e8re dose-d\u00e9pendante, dans les cellules lymphoblasto\u00efdes de patients pr\u00e9sentant une duplication de 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\">Ver la publicaci\u00f3n<\/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\/es\/symptomes-reversibles\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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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