{"id":1648,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=1648"},"modified":"2023-01-13T11:44:56","modified_gmt":"2023-01-13T11:44:56","slug":"odwracalny-fenotyp-myszy-humanizowanych","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/odwracalny-fenotyp-myszy-humanizowanych\/","title":{"rendered":"Odwracalne objawy u humanizowanych myszy"},"content":{"rendered":"<p><strong>Shao i wsp. z grupy prof. Zoghbi (Baylor College of Medicine, Teksas, USA) opublikowali artyku\u0142 w czasopi\u015bmie Science Translational Medicine zatytu\u0142owany \"Antisense oligonucleotide therapy in a humanised mouse model of MECP2 duplication syndrome\". <\/strong><\/p>\n\n\n\n<p><strong>Ka\u017cdy gatunek ma swoje w\u0142asne geny. Geny koduj\u0105 bia\u0142ka, kt\u00f3re s\u0105 specyficzne dla ka\u017cdego gatunku. Bia\u0142ka ludzkie i mysie mog\u0105 si\u0119 nieznacznie r\u00f3\u017cni\u0107. Model zastosowany w prezentowanej pracy, znany jako \"model humanizowany\", umo\u017cliwia ocen\u0119 aktywno\u015bci oligonukleotyd\u00f3w antysensownych (ASO) konkretnie na ludzkim bia\u0142ku wytwarzanym przez mysz. Jest to zatem bli\u017csze przysz\u0142emu zastosowaniu ASO u ludzi.<\/strong><\/p>\n\n\n\n<p><strong>W artykule przedstawiono wyniki uzyskane po dokomorowym wstrzykni\u0119ciu ASO w mysim modelu duplikacji \"humanizowanego genu MECP2\", w kt\u00f3rym mysz jest nosicielem dw\u00f3ch ludzkich alleli MECP2 i nie ma endogennego allelu myszy.<\/strong><\/p>\n\n\n\n<p><strong>Podanie skutecznie zmniejszy\u0142o ekspresj\u0119 MeCP2 w m\u00f3zgach tych myszy, z\u0142agodzi\u0142o kilka deficyt\u00f3w behawioralnych i przywr\u00f3ci\u0142o ekspresj\u0119 niekt\u00f3rych gen\u00f3w regulowanych przez MeCP2 w spos\u00f3b zale\u017cny od dawki i bez \u017cadnej toksyczno\u015bci.<\/strong><\/p>\n\n\n\n<p>Terapia oligonukleotydami antysensownymi w humanizowanym mysim modelu zespo\u0142u duplikacji MECP2, Shao i in.<em>Sci. Transl. Med<\/em>. <strong>13<\/strong>, 7785 (2021)<\/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 :<\/strong><\/p>\n\n\n\n<p>Wiele zaburze\u0144 prowadz\u0105cych do niepe\u0142nosprawno\u015bci intelektualnej jest spowodowanych zmianami liczby kopii i do tej pory nie przetestowano \u017cadnych opcji terapeutycznych dla tej klasy chor\u00f3b. Zesp\u00f3\u0142 duplikacji MECP2 jest jedn\u0105 z najcz\u0119stszych rearan\u017cacji genomowych u m\u0119\u017cczyzn i wynika z duplikacji obejmuj\u0105cych locus genu bia\u0142ka wi\u0105\u017c\u0105cego metylo-CpG 2 (MECP2). Wcze\u015bniej wykazali\u015bmy, \u017ce terapia oligonukleotydami antysensownymi (ASO) mo\u017ce zmniejszy\u0107 ilo\u015b\u0107 bia\u0142ka MECP2 w mysim modelu z duplikacj\u0105 i odwr\u00f3ci\u0107 objawy charakterystyczne dla zespo\u0142u.<\/p>\n\n\n\n<p>Jednak ten model myszy zawiera\u0142 zar\u00f3wno transgeniczny allel ludzki, jak i allel mysi, przy czym ten drugi by\u0142 chroniony przed celowaniem przez specyficzne dla cz\u0142owieka ASO-MECP2.<\/p>\n\n\n\n<p>Bia\u0142ko MeCP2 jest bia\u0142kiem o wysokim st\u0119\u017ceniu. ASO musi by\u0107 zatem miareczkowane tak, aby ilo\u015b\u0107 MeCP2 nie by\u0142a zbyt niska, poniewa\u017c spowodowa\u0142oby to zesp\u00f3\u0142 Retta. Dlatego wygenerowali\u015bmy model \"humanizowanej duplikacji genu MECP2\", w kt\u00f3rym mysz jest nosicielem dw\u00f3ch ludzkich alleli MECP2 i nie ma endogennego allelu myszy. Wewn\u0105trzm\u00f3zgowe wstrzykni\u0119cie ASO-MECP2 skutecznie zmniejszy\u0142o ekspresj\u0119 MeCP2 w m\u00f3zgu tych myszy. Ponadto ASO-MECP2 \u0142agodzi\u0142o kilka deficyt\u00f3w behawioralnych i przywraca\u0142o ekspresj\u0119 niekt\u00f3rych gen\u00f3w regulowanych przez MeCP2 w spos\u00f3b zale\u017cny od dawki i bez \u017cadnej toksyczno\u015bci. Podawanie ASO-MECP2 do o\u015brodkowego uk\u0142adu nerwowego jest zatem dobrze tolerowane i korzystne w tym modelu myszy i stanowi podej\u015bcie transpozycyjne, kt\u00f3re mo\u017cna rozwa\u017cy\u0107 w leczeniu zespo\u0142\u00f3w duplikacji genu MECP2.<\/p>\n\n\n\n<div style=\"height:100px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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-background wp-element-button\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33658357\/\" style=\"border-radius:14px;background-color:#f7a13f\" target=\"_blank\" rel=\"noreferrer noopener\">Zobacz publikacj\u0119<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Shao et al. du groupe du Pr. Zoghbi (Baylor College of Medicine, Texas, USA) ont publi\u00e9 un article dans la revue Science Translational medicine intitul\u00e9 \u00abTh\u00e9rapie par oligonucl\u00e9otides antisens dans [&hellip;]<\/p>","protected":false},"author":1,"featured_media":11722,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-1648","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 les souris humanis\u00e9es - 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\/odwracalny-fenotyp-myszy-humanizowanych\/\" \/>\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 les souris humanis\u00e9es - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Shao et al. du groupe du Pr. 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