{"id":15103,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T18:42:45","guid":{"rendered":"https:\/\/dupmecp2.eu\/reversion-de-fenotipos-en-ratones\/"},"modified":"2023-02-20T20:06:52","modified_gmt":"2023-02-20T20:06:52","slug":"odwrocenie-fenotipos-u-szczurow","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/odwrocenie-fenotipos-u-szczurow\/","title":{"rendered":"Odwr\u00f3cenie fenotipos u szczur\u00f3w"},"content":{"rendered":"<p><strong>Prof. Huda Zoghbi i wsp. (Baylor College of Medicine, Teksas, USA) opublikowali artyku\u0142 w czasopi\u015bmie Nature zatytu\u0142owany \"Odwracalny fenotyp u myszy przy u\u017cyciu ratowania gen\u00f3w lub oligonukleotyd\u00f3w antysensownych\". W artykule przedstawiono wyniki zastosowania antysensownych oligonukleotyd\u00f3w w celu skorygowania poziomu MeCP2 i przywr\u00f3cenia zaburze\u0144 przewodnictwa, molekularnych i elektrofizjologicznych w modelu zwierz\u0119cym z duplikacj\u0105 genu MECP2.<\/strong><\/p>\n\n<p>Odwr\u00f3cenie fenotyp\u00f3w u myszy z duplikacj\u0105 MECP2 za pomoc\u0105 ratunku genetycznego lub oligonukleotyd\u00f3w antysensownych, Huda Zoghbi <em>i in,<\/em> <em>Natura<\/em><strong> 528, <\/strong>123-126 (2015)<\/p>\n\n<p><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/p>\n\n<p><strong>STRESZCZENIE PUBLIKACJI:<\/strong><\/p>\n\n<p>R\u00f3\u017cnice w liczbie kopii s\u0105 cz\u0119sto zwi\u0105zane z op\u00f3\u017anieniem rozwoju, niepe\u0142nosprawno\u015bci\u0105 intelektualn\u0105 i zaburzeniami ze spektrum autyzmu. Zesp\u00f3\u0142 duplikacji genu MECP2 jest jedn\u0105 z najbardziej powszechnych reordenamientos gen\u00f3micos u waron\u00f3w i charakteryzuje si\u0119 autyzmem, niepe\u0142nosprawno\u015bci\u0105 intelektualn\u0105, dysfunkcj\u0105 ruchow\u0105, niepokojem, padaczk\u0105, nawracaj\u0105cymi infekcjami dr\u00f3g oddechowych i przedwczesn\u0105 \u015bmierci\u0105.<\/p>\n\n<p>Szeroka gama zaburze\u0144 spowodowanych niedoborem bia\u0142ka jednocz\u0105cego metyl-CpG 2 (MeCP2) stanowi ogromne wyzwanie dla tradycyjnych metod leczenia opartych na mechanizmach biologicznych. W zwi\u0105zku z tym poszukujemy strategii, kt\u00f3re kieruj\u0105 si\u0119 bezpo\u015brednio do MeCP2 i s\u0105 podatne na zastosowanie w terapii klinicznej.<\/p>\n\n<p>Pierwsz\u0105 kwesti\u0105, na kt\u00f3rej si\u0119 skupili\u015bmy, by\u0142o to, czy zaburzenia neurologiczne s\u0105 odwracalne po wyst\u0105pieniu objaw\u00f3w. La reversi\u00f3n de los fenotipos en ratones adultos sintom\u00e1ticos han demostrado en algunos modelos de p\u00e9rdida monog\u00e9nica funcional en trastornos neurol\u00f3gicos, incluyendo la p\u00e9rdida de MeCP2 en el s\u00edndrome de Rett. Wskazuje to, \u017ce w niekt\u00f3rych przypadkach neuroanatomia mo\u017ce pozosta\u0107 w wystarczaj\u0105cym stopniu nienaruszona, aby korekcja zaburze\u0144 molekularnych mog\u0142a przywr\u00f3ci\u0107 zdrow\u0105 fizjologi\u0119.<\/p>\n\n<p>Ze wzgl\u0119du na wyst\u0119powanie neurodegeneracji w zespole duplikacji MECP2, proponujemy, aby przywr\u00f3cenie prawid\u0142owych poziom\u00f3w MeCP2 u doros\u0142ych szczur\u00f3w z duplikacj\u0105 MECP2 uratowa\u0142o ich fenotipo.<\/p>\n\n<p>W wyniku wygenerowania i scharakteryzowania modelu zaburze\u0144 r\u00f3wnowagi MeCP2 u szczur\u00f3w wykazano, \u017ce korekcja MeCP2 w znacznym stopniu koryguje zaburzenia przewodnictwa, molekularne i elektrofizjologiczne.<\/p>\n\n<p>Zredukowali\u015bmy r\u00f3wnie\u017c MeCP2 za pomoc\u0105 strategii antysensownych oligonukleotyd\u00f3w, kt\u00f3ra ma wi\u0119kszy potencja\u0142 translacyjny.<\/p>\n\n<p>Los oligonucle\u00f3tidos antisentido son peque\u00f1os \u00e1cidos nucleicos modificados que puen hibridarse selectivamente con el ARN mensajero transcrito de un gen blanco y silenciarlo, dicha t\u00e9cnica ha sido usada exitosamente para corregir d\u00e9ficits en diferentes modelos en ratones.<\/p>\n\n<p>Odkryli\u015bmy, \u017ce leczenie oligonukleotydami antysentydowymi indukuje znaczn\u0105 redukcj\u0119 fenotypu u doros\u0142ych szczur\u00f3w transgenicznych z duplikacj\u0105 MECP2 (MECP2-TG) i koryguje poziomy MeCP2 w kom\u00f3rkach pod\u015bcieliska u pacjent\u00f3w z duplikacj\u0105 MECP2 w spos\u00f3b zale\u017cny od dawki.<\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/p>\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>Prof. Huda Zoghbi et al (Baylor College of Medicine, Texas, EE.UU.) publicaron un art\u00edculo en la revista Nature titulado \u00ab\u00a0Reversible phenotype in mice using gene rescue or antisense oligonucleotides\u00a0\u00bb. Este [&hellip;]<\/p>","protected":false},"author":1,"featured_media":13096,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[113],"tags":[],"class_list":["post-15103","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publicacion"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Reversi\u00f3n de fenotipos en ratones - 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\/pl\/odwrocenie-fenotipos-u-szczurow\/?lang=es\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Reversi\u00f3n de fenotipos en ratones - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Prof. Huda Zoghbi et al (Baylor College of Medicine, Texas, EE.UU.) publicaron un art\u00edculo en la revista Nature titulado \u00ab\u00a0Reversible phenotype in mice using gene rescue or antisense oligonucleotides\u00a0\u00bb. 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