{"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":"fenotipo-reversibile-topi-umanizzati","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/fenotipo-reversibile-topi-umanizzati\/","title":{"rendered":"Sintomi reversibili in topi umanizzati"},"content":{"rendered":"<p><strong>Shao et al. del gruppo del Prof. Zoghbi (Baylor College of Medicine, Texas, USA) hanno pubblicato un articolo sulla rivista Science Translational Medicine dal titolo \"Antisense oligonucleotide therapy in a humanised mouse model of MECP2 duplication syndrome\". <\/strong><\/p>\n\n\n\n<p><strong>Ogni specie ha i propri geni. I geni codificano per proteine specifiche di ogni specie. Le proteine umane e murine possono essere leggermente diverse. Il modello utilizzato nel lavoro presentato, noto come \"modello umanizzato\", consente di valutare l'attivit\u00e0 degli oligonucleotidi antisenso (ASO) specificamente sulla proteina umana prodotta da un topo. \u00c8 quindi pi\u00f9 vicino al futuro utilizzo degli ASO nell'uomo.<\/strong><\/p>\n\n\n\n<p><strong>Questo articolo presenta i risultati ottenuti dopo l'iniezione intracerebroventricolare di ASO nel modello murino di duplicazione del gene \"MECP2 umanizzato\", in cui il topo porta due alleli MECP2 umani e nessun allele endogeno del topo.<\/strong><\/p>\n\n\n\n<p><strong>La somministrazione ha ridotto efficacemente l'espressione di MeCP2 in tutto il cervello di questi topi, ha attenuato diversi deficit comportamentali e ha ripristinato l'espressione di alcuni geni regolati da MeCP2 in modo dose-dipendente e senza alcuna tossicit\u00e0.<\/strong><\/p>\n\n\n\n<p>Terapia con oligonucleotidi antisenso in un modello murino umanizzato di sindrome da duplicazione MECP2, Shao et al.<em>Sci. Traducibile. 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>RIASSUNTO DELL'ARTICOLO :<\/strong><\/p>\n\n\n\n<p>Molti disturbi che portano alla disabilit\u00e0 intellettiva sono dovuti a variazioni del numero di copie e, ad oggi, non sono state testate opzioni terapeutiche per questa classe di malattie. La sindrome da duplicazione MECP2 \u00e8 uno dei riarrangiamenti genomici pi\u00f9 comuni nei maschi e deriva da duplicazioni che interessano il locus del gene methyl-CpG binding protein 2 (MECP2). In precedenza abbiamo dimostrato che la terapia con oligonucleotidi antisenso (ASO) pu\u00f2 ridurre la quantit\u00e0 di proteina MECP2 in un modello di topo con la duplicazione e invertire i sintomi caratteristici della sindrome.<\/p>\n\n\n\n<p>Tuttavia, questo modello murino presentava sia un allele umano transgenico sia un allele murino, quest'ultimo protetto dal bersaglio dell'ASO-MECP2 specifico per l'uomo.<\/p>\n\n\n\n<p>MeCP2 \u00e8 una proteina ad alta concentrazione. L'ASO deve quindi essere titolato in modo che la quantit\u00e0 di MeCP2 non sia troppo bassa, poich\u00e9 ci\u00f2 causerebbe la sindrome di Rett. Pertanto, abbiamo generato un modello di duplicazione del gene MECP2 \"umanizzato\" in cui il topo porta due alleli MECP2 umani e nessun allele endogeno del topo. L'iniezione intracerebroventricolare di ASO-MECP2 ha ridotto efficacemente l'espressione di MeCP2 in tutto il cervello di questi topi. Inoltre, ASO-MECP2 ha attenuato diversi deficit comportamentali e ripristinato l'espressione di alcuni geni regolati da MeCP2 in modo dose-dipendente e senza alcuna tossicit\u00e0. La somministrazione di ASO-MECP2 al sistema nervoso centrale \u00e8 quindi ben tollerata e benefica in questo modello murino e costituisce un approccio trasponibile che potrebbe essere preso in considerazione per il trattamento delle sindromi da duplicazione del gene 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\">Vedere la pubblicazione<\/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\/it\/fenotipo-reversibile-topi-umanizzati\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\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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