{"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":"inversion-de-fenotipos-en-ratones-con-duplicacion-de-mecp2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/inversion-de-fenotipos-en-ratones-con-duplicacion-de-mecp2\/","title":{"rendered":"Inversi\u00f3n de fenotipos en ratones con duplicaci\u00f3n de MECP2"},"content":{"rendered":"<p><strong>El Prof. Huda Zoghbi et al (Baylor College of Medicine, Texas, EE.UU.) publicaron un art\u00edculo en la revista Nature titulado \"Reversible phenotype in mice using gene rescue or antisense oligonucleotides\". Este art\u00edculo presenta los resultados del uso de oligonucle\u00f3tidos en antisentido para corregir los niveles de MeCP2 y revertir los trastornos conductuales, moleculares y electrofisiol\u00f3gicos en un modelo animal con una duplicaci\u00f3n del gen 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, <\/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>RESUMEN DE LA PUBLICACI\u00d3N:<\/strong><\/p>\n\n\n\n<p>Las variaciones en el n\u00famero de copias se han asociado con frecuencia a retraso del desarrollo, discapacidad intelectual y trastornos del espectro autista. El s\u00edndrome de duplicaci\u00f3n de MECP2 es uno de los reordenamientos gen\u00f3micos m\u00e1s frecuentes en varones y se caracteriza por autismo, discapacidad intelectual, disfunci\u00f3n motora, ansiedad, epilepsia, infecciones recurrentes de las v\u00edas respiratorias y muerte prematura.<\/p>\n\n\n\n<p>El amplio abanico de d\u00e9ficits causados por la sobreexpresi\u00f3n de la prote\u00edna 2 de uni\u00f3n a metil-CpG (MeCP2) plantea un desaf\u00edo de enormes proporciones a los enfoques terap\u00e9uticos tradicionales basados en v\u00edas bioqu\u00edmicas. En consecuencia, buscamos estrategias dirigidas directamente a la MeCP2 y susceptibles de ser trasladadas a la terapia cl\u00ednica.<\/p>\n\n\n\n<p>La primera cuesti\u00f3n que abordamos fue si la disfunci\u00f3n neurol\u00f3gica es reversible tras la aparici\u00f3n de los s\u00edntomas. La reversi\u00f3n de los fenotipos en ratones adultos sintom\u00e1ticos se ha demostrado en algunos modelos de trastornos neurol\u00f3gicos monog\u00e9nicos de p\u00e9rdida de funci\u00f3n, incluida la p\u00e9rdida de MeCP2 en el s\u00edndrome de Rett, lo que 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 restaurar la fisiolog\u00eda saludable.<\/p>\n\n\n\n<p>Dada la ausencia de neurodegeneraci\u00f3n en el s\u00edndrome de duplicaci\u00f3n de MECP2, proponemos que la restauraci\u00f3n de los niveles normales de MeCP2 en ratones adultos con duplicaci\u00f3n de MECP2 rescatar\u00eda su fenotipo.<\/p>\n\n\n\n<p>Mediante la generaci\u00f3n y caracterizaci\u00f3n de un modelo de rat\u00f3n condicional de sobreexpresi\u00f3n de Mecp2, aqu\u00ed mostramos 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>Tambi\u00e9n redujimos MeCP2 utilizando una estrategia de oligonucle\u00f3tidos antisentido, que tiene un mayor potencial traslacional.<\/p>\n\n\n\n<p>Los oligonucle\u00f3tidos antisentido son peque\u00f1os \u00e1cidos nucleicos modificados que pueden hibridarse selectivamente con el ARN mensajero transcrito de un gen diana y silenciarlo, y se han utilizado con \u00e9xito para corregir d\u00e9ficits en diferentes modelos de rat\u00f3n.<\/p>\n\n\n\n<p>Encontramos que el tratamiento con oligonucle\u00f3tidos antisentido induce un amplio rescate fenot\u00edpico en ratones adultos sintom\u00e1ticos transg\u00e9nicos con duplicaci\u00f3n de MECP2 (MECP2-TG), y corrige los niveles de MECP2 en c\u00e9lulas linfoblastoides de pacientes con duplicaci\u00f3n de MECP2 de forma dosis-dependiente.<\/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\">A la publicaci\u00f3n<\/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\/es\/inversion-de-fenotipos-en-ratones-con-duplicacion-de-mecp2\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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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