{"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":"odwrocenie-fenotypow-u-myszy-z-duplikacja-mecp2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/odwrocenie-fenotypow-u-myszy-z-duplikacja-mecp2\/","title":{"rendered":"Odwr\u00f3cenie fenotyp\u00f3w u myszy z duplikacj\u0105 MECP2"},"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\". Artyku\u0142 ten przedstawia wyniki zastosowania oligonukleotyd\u00f3w antysensownych w korygowaniu poziomu MeCP2 i odwracaniu zaburze\u0144 behawioralnych, molekularnych i elektrofizjologicznych w modelu zwierz\u0119cym z duplikacj\u0105 genu MECP2.<\/strong><\/p>\n\n\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\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>STRESZCZENIE PUBLIKACJI:<\/strong><\/p>\n\n\n\n<p>Zmiany liczby 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 MECP2 jest jedn\u0105 z najcz\u0119stszych rearan\u017cacji genomowych u m\u0119\u017cczyzn i charakteryzuje si\u0119 autyzmem, niepe\u0142nosprawno\u015bci\u0105 intelektualn\u0105, dysfunkcj\u0105 ruchow\u0105, l\u0119kiem, padaczk\u0105, nawracaj\u0105cymi infekcjami dr\u00f3g oddechowych i przedwczesn\u0105 \u015bmierci\u0105.<\/p>\n\n\n\n<p>Szeroki zakres deficyt\u00f3w spowodowanych nadekspresj\u0105 bia\u0142ka wi\u0105\u017c\u0105cego metylo-CpG 2 (MeCP2) stanowi trudne wyzwanie dla tradycyjnych podej\u015b\u0107 terapeutycznych opartych na szlakach biochemicznych. W zwi\u0105zku z tym poszukiwali\u015bmy strategii, kt\u00f3re bezpo\u015brednio celuj\u0105 w MeCP2 i s\u0105 podatne na prze\u0142o\u017cenie na terapi\u0119 kliniczn\u0105.<\/p>\n\n\n\n<p>Pierwszym pytaniem, kt\u00f3rym si\u0119 zaj\u0119li\u015bmy, by\u0142o to, czy dysfunkcja neurologiczna jest odwracalna po wyst\u0105pieniu objaw\u00f3w. Odwr\u00f3cenie fenotyp\u00f3w u doros\u0142ych myszy z objawami wykazano w niekt\u00f3rych modelach monogenowej utraty funkcji zaburze\u0144 neurologicznych, w tym utraty MeCP2 w zespole Retta, co wskazuje, \u017ce przynajmniej w niekt\u00f3rych przypadkach neuroanatomia mo\u017ce pozosta\u0107 wystarczaj\u0105co nienaruszona, aby korekta dysfunkcji molekularnej le\u017c\u0105cej u podstaw tych zaburze\u0144 mog\u0142a przywr\u00f3ci\u0107 zdrow\u0105 fizjologi\u0119.<\/p>\n\n\n\n<p>Bior\u0105c pod uwag\u0119 brak neurodegeneracji w zespole duplikacji MECP2, proponujemy, aby przywr\u00f3cenie normalnego poziomu MeCP2 u doros\u0142ych myszy z duplikacj\u0105 MECP2 uratowa\u0142o ich fenotyp.<\/p>\n\n\n\n<p>Generuj\u0105c i charakteryzuj\u0105c warunkowy model myszy z nadekspresj\u0105 Mecp2, pokazujemy, \u017ce korekta poziomu MeCP2 w znacznym stopniu odwraca deficyty behawioralne, molekularne i elektrofizjologiczne.<\/p>\n\n\n\n<p>Zmniejszyli\u015bmy r\u00f3wnie\u017c MeCP2 przy u\u017cyciu strategii oligonukleotyd\u00f3w antysensownych, kt\u00f3ra ma wi\u0119kszy potencja\u0142 translacyjny.<\/p>\n\n\n\n<p>Oligonukleotydy antysensowne to ma\u0142e, zmodyfikowane kwasy nukleinowe, kt\u00f3re mog\u0105 selektywnie hybrydyzowa\u0107 z informacyjnym RNA transkrybowanym z docelowego genu i wycisza\u0107 go, i by\u0142y z powodzeniem stosowane do korygowania deficyt\u00f3w w r\u00f3\u017cnych modelach myszy.<\/p>\n\n\n\n<p>Odkryli\u015bmy, \u017ce leczenie oligonukleotydami antysensownymi indukuje szeroki fenotypowy ratunek u doros\u0142ych objawowych transgenicznych myszy z duplikacj\u0105 MECP2 (MECP2-TG) i koryguje poziomy MECP2 w kom\u00f3rkach limfoblastoidalnych od pacjent\u00f3w z duplikacj\u0105 MECP2 w spos\u00f3b zale\u017cny od dawki.<\/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\">Do publikacji<\/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\/pl\/odwrocenie-fenotypow-u-myszy-z-duplikacja-mecp2\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\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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