{"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":"odwracalne-objawy","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/odwracalne-objawy\/","title":{"rendered":"Odwracalne objawy u myszy"},"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 ratunku genetycznego lub oligonukleotyd\u00f3w antysensownych\". W artykule przedstawiono wyniki stosowania oligonukleotyd\u00f3w antysensownych (ASO) w celu skorygowania poziomu MeCP2 i odwr\u00f3cenia 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,&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>STRESZCZENIE ARTYKU\u0141U (przet\u0142umaczone z j\u0119zyka angielskiego):<\/strong><\/p>\n\n\n\n<p>Zmienno\u015b\u0107 liczby kopii cz\u0119sto wi\u0105\u017ce si\u0119 z op\u00f3\u017anieniem rozwoju, niepe\u0142nosprawno\u015bci\u0105 intelektualn\u0105 i spektrum autystycznym. Zesp\u00f3\u0142 duplikacji genu MECP2 jest rearan\u017cacj\u0105 genomu dotykaj\u0105c\u0105 g\u0142\u00f3wnie m\u0119\u017cczyzn i charakteryzuje si\u0119 spektrum autystycznym, niepe\u0142nosprawno\u015bci\u0105 intelektualn\u0105, dysfunkcj\u0105 ruchow\u0105, l\u0119kiem, napadami padaczkowymi, infekcjami dr\u00f3g oddechowych i przedwczesn\u0105 \u015bmierci\u0105.<\/p>\n\n\n\n<p>Szeroka gama deficyt\u00f3w spowodowanych nadekspresj\u0105 bia\u0142ka MeCP2 stanowi powa\u017cne wyzwanie dla tradycyjnych podej\u015b\u0107 terapeutycznych opartych na szlakach biochemicznych. Dlatego zbadali\u015bmy strategie terapeutyczne, kt\u00f3re bezpo\u015brednio celuj\u0105 w bia\u0142ko MeCP2 i maj\u0105 potencja\u0142 do prze\u0142o\u017cenia 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 neurologicznych, w szczeg\u00f3lno\u015bci utraty MeCP2 w zespole Retta. Wskazuje to, \u017ce przynajmniej w niekt\u00f3rych przypadkach neuroanatomia mo\u017ce pozosta\u0107 wystarczaj\u0105co nienaruszona, aby skorygowa\u0107 dysfunkcj\u0119 molekularn\u0105 le\u017c\u0105c\u0105 u podstaw tych zaburze\u0144 w celu przywr\u00f3cenia zdrowej fizjologii.<\/p>\n\n\n\n<p>Bior\u0105c pod uwag\u0119 brak neurodegeneracji w zespole duplikacji MECP2, uwa\u017camy, \u017ce przywr\u00f3cenie normalnego poziomu MeCP2 u doros\u0142ych myszy z duplikacj\u0105 MECP2 powinno skorygowa\u0107 ich fenotyp.<\/p>\n\n\n\n<p>Poprzez wygenerowanie i scharakteryzowanie modelu myszy z nadekspresj\u0105 Mecp2, pokazujemy tutaj, \u017ce korekta poziomu MeCP2 w du\u017cej mierze 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 niedobor\u00f3w w r\u00f3\u017cnych modelach mysich.<\/p>\n\n\n\n<p>Odkryli\u015bmy, \u017ce oligonukleotydy antysensowne indukuj\u0105 szerok\u0105 regeneracj\u0119 fenotypu u doros\u0142ych objawowych myszy transgenicznych z duplikacj\u0105 MECP2 i koryguj\u0105 poziomy MeCP2, w spos\u00f3b zale\u017cny od dawki, w kom\u00f3rkach limfoblastoidalnych od pacjent\u00f3w z duplikacj\u0105 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\">Zobacz publikacj\u0119<\/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\/pl\/odwracalne-objawy\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\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. 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