{"id":9344,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"https:\/\/dupmecp2.eu\/reversible-phenotype-in-humanized-mouse-model\/"},"modified":"2023-01-13T11:44:59","modified_gmt":"2023-01-13T11:44:59","slug":"fenotipo-reversibile-in-un-modello-murino-umanizzato","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/fenotipo-reversibile-in-un-modello-murino-umanizzato\/","title":{"rendered":"Fenotipo reversibile in un modello murino umanizzato"},"content":{"rendered":"<p><strong>Shao et al. del gruppo del Prof. Zoghbi (Baylor College of Medicine, Texas, USA) hanno pubblicato un articolo su Science Translational medicine dal titolo \"Antisense oligonucleotide therapy in a humanized 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 uniche per ogni specie. \u00c8 possibile che le proteine dell'uomo e del topo siano leggermente diverse. Il modello utilizzato nel lavoro presentato, chiamato \"modello umanizzato\", permette di valutare meglio 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 oligonucleotidi antisenso in questo modello murino di duplicazione genica \"MECP2 umanizzata\", in cui il topo \u00e8 portatore di 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 alleviato 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>ESTRATTO DELLA PUBBLICAZIONE<\/strong><\/p>\n\n\n\n<p>Molti disturbi della disabilit\u00e0 intellettiva sono dovuti a variazioni del numero di copie e, ad oggi, non sono state sperimentate opzioni terapeutiche per questa classe di malattie. La sindrome da duplicazione MECP2 (MDS) \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 murino di MDS e invertire le caratteristiche della malattia.<\/p>\n\n\n\n<p>Questo modello murino di MDS, tuttavia, presentava un allele umano transgenico e un allele murino, con quest'ultimo protetto dal targeting MECP2-ASO specifico per l'uomo.<\/p>\n\n\n\n<p>Poich\u00e9 MeCP2 \u00e8 una proteina sensibile al dosaggio, l'ASO deve essere titolato in modo che la quantit\u00e0 di MeCP2 non si riduca troppo, causando la sindrome di Rett. Pertanto, abbiamo generato un modello di MDS \"umanizzato\" con due alleli umani di MECP2 e nessun allele endogeno di topo. L'iniezione intracerebroventricolare di MECP2-ASO ha ridotto efficacemente l'espressione di MeCP2 in tutto il cervello di questi topi. Inoltre, MECP2-ASO ha attenuato diversi deficit comportamentali e ripristinato l'espressione di geni selezionati regolati da MeCP2 in modo dose-dipendente senza alcuna tossicit\u00e0. La somministrazione di MECP2-ASO al sistema nervoso centrale \u00e8 quindi ben tollerata e benefica in questo modello murino e fornisce un approccio traducibile che potrebbe essere attuabile per il trattamento delle SMD.<\/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\"><a class=\"wp-block-button__link has-white-color has-text-color 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\">Alla pubblicazione<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Shao et al. from Prof. Zoghbi&rsquo;s group (Baylor College of Medicine, Texas, USA) published an article in Science Translational medicine entitled \u00ab\u00a0Antisense oligonucleotide therapy in a humanized mouse model of [&hellip;]<\/p>","protected":false},"author":1,"featured_media":11723,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[88],"tags":[],"class_list":["post-9344","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 - 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