{"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":"sintomas-reversibles","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/sintomas-reversibles\/","title":{"rendered":"S\u00edntomas reversibles en ratones"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>La profesora Huda Zoghbi y otros (Baylor College of Medicine, Texas, EE. UU.) han publicado un art\u00edculo en la revista *Nature* titulado \u00abFenotipo reversible en ratones mediante el uso de rescate gen\u00e9tico u oligonucle\u00f3tidos antisentido\u00bb. Este art\u00edculo presenta los resultados del uso de oligonucle\u00f3tidos antisentido (ASO) para corregir los niveles de MeCP2 y revertir los trastornos conductuales, moleculares y electrofisiol\u00f3gicos en un modelo animal que presenta una duplicaci\u00f3n del gen MECP2.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">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 class=\"wp-block-paragraph\"><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>RESUMEN DEL ART\u00cdCULO (Traducido del ingl\u00e9s):<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Las variaciones en el n\u00famero de copias se han asociado con frecuencia con un retraso en el desarrollo, una discapacidad intelectual y un trastorno del espectro autista. El s\u00edndrome de duplicaci\u00f3n del gen MECP2 es una reordenaci\u00f3n del genoma que afecta principalmente a varones y se caracteriza por trastornos del espectro autista, discapacidad intelectual, disfunci\u00f3n motora, ansiedad, crisis epil\u00e9pticas, infecciones del sistema respiratorio y muerte prematura.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La gran variedad de d\u00e9ficits provocados por la sobreexpresi\u00f3n de la prote\u00edna MeCP2 supone un gran reto para los enfoques terap\u00e9uticos tradicionales basados en las v\u00edas bioqu\u00edmicas. Por ello, hemos estudiado estrategias terap\u00e9uticas que se dirigen directamente a la prote\u00edna MeCP2 y que podr\u00edan trasladarse a la pr\u00e1ctica cl\u00ednica.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La primera cuesti\u00f3n que abordamos fue si la disfunci\u00f3n neurol\u00f3gica es reversible tras la aparici\u00f3n de los s\u00edntomas. Se ha demostrado la reversi\u00f3n de los fenotipos en ratones adultos sintom\u00e1ticos en determinados modelos de p\u00e9rdida monog\u00e9nica de funciones neurol\u00f3gicas, en particular la p\u00e9rdida de MeCP2 en el s\u00edndrome de Rett. Esto indica que, al menos en algunos casos, la neuroanatom\u00eda puede permanecer lo suficientemente intacta como para que la correcci\u00f3n de la disfunci\u00f3n molecular subyacente a estos trastornos pueda restablecer una fisiolog\u00eda sana.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Dada la ausencia de neurodegeneraci\u00f3n en el s\u00edndrome de duplicaci\u00f3n de MECP2, creemos que la restauraci\u00f3n de los niveles normales de MeCP2 en ratones adultos con duplicaci\u00f3n de MECP2 deber\u00eda permitir corregir su fenotipo.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Mediante la generaci\u00f3n y caracterizaci\u00f3n de un modelo de rat\u00f3n con sobreexpresi\u00f3n de Mecp2, demostramos aqu\u00ed que la correcci\u00f3n de los niveles de MeCP2 revierte en gran medida los d\u00e9ficits conductuales, moleculares y electrofisiol\u00f3gicos.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Tambi\u00e9n hemos reducido los niveles de MeCP2 mediante una estrategia basada en oligonucle\u00f3tidos antisentido, que tiene un mayor potencial de aplicaci\u00f3n pr\u00e1ctica.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Los oligonucle\u00f3tidos antisentido son peque\u00f1os \u00e1cidos nucleicos modificados que pueden hibridarse de forma selectiva con el ARN mensajero transcrito a partir de un gen diana y silenciarlo; se han utilizado con \u00e9xito para corregir deficiencias en diferentes modelos de rat\u00f3n.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Observamos que los oligonucle\u00f3tidos antisentido inducen una amplia recuperaci\u00f3n del fenotipo en ratones transg\u00e9nicos adultos sintom\u00e1ticos con una duplicaci\u00f3n del gen MECP2 y corrigen los niveles de MeCP2, de forma dependiente de la dosis, en las c\u00e9lulas linfoblastoides de pacientes con una duplicaci\u00f3n del gen MECP2.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><\/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\/sintomas-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. (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;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dupmecp2.eu\/es\/sintomas-reversibles\/\" \/>\n<meta property=\"og:site_name\" content=\"DupMECP2\" \/>\n<meta property=\"article:published_time\" content=\"2022-06-14T20:42:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-01-13T11:44:54+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=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"Caroline\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/dupmecp2.eu\/symptomes-reversibles\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/symptomes-reversibles\/\"},\"author\":{\"name\":\"Caroline\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/b41e8cbba153cd974ee340386af279ee\"},\"headline\":\"Sympt\u00f4mes r\u00e9versibles chez la souris\",\"datePublished\":\"2022-06-14T20:42:45+00:00\",\"dateModified\":\"2023-01-13T11:44:54+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/symptomes-reversibles\/\"},\"wordCount\":562,\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/symptomes-reversibles\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/06\/Zoghbi-2015.jpg\",\"articleSection\":[\"Publications scientifiques\"],\"inLanguage\":\"es\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/dupmecp2.eu\/symptomes-reversibles\/\",\"url\":\"https:\/\/dupmecp2.eu\/symptomes-reversibles\/\",\"name\":\"Sympt\u00f4mes r\u00e9versibles chez la souris - 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