{"id":7365,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/06\/14\/reversibler-phaenotyp-bei-humanisierten-maeusen\/"},"modified":"2023-01-13T11:46:50","modified_gmt":"2023-01-13T11:46:50","slug":"fenotipi-reversibili-nel-caso-di-maeusen-umanizzate","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/fenotipi-reversibili-nel-caso-di-maeusen-umanizzate\/","title":{"rendered":"Ph\u00e4notyp reversibile nei casi di M\u00e4usen umanizzato"},"content":{"rendered":"<p><strong>Shao et al. aus der Gruppe von Prof. Zoghbi (Baylor College of Medicine, Texas, USA) publizieren in der Zeitschrift Science Translational medicine einen Artikel mit dem Titel \"Antisense-Oligonucleotid-Therapie auf einem humanisierten Mausmodell des MECP2-Duplikation Syndroms\". <\/strong><\/p>\n\n\n\n<p><strong>Ogni specie ha dei geni, che la caratterizzano. I geni sono in grado di distinguere le proteine, che per ogni specie sono caratterizzate in modo specifico. \u00c8 quindi possibile distinguere tra proteine umane e animali. Das in der vorliegenden Studie verwendete Modell, das als \"humanisiertes Modell\" bezeichnet wird, erm\u00f6glicht es, die Aktivit\u00e4t von Antisense-Oligonukleotiden (ASOs) spezifisch auf humanes Protein, das von einer Maus produziert wird, besser zu bewerten. Ecco perch\u00e9 l'uso futuro degli ASO nell'uomo \u00e8 cos\u00ec importante.<\/strong><\/p>\n\n\n\n<p><strong>In diesem Artikel werden die Ergebnisse vorgestellt, die nach intrazerebroventrikul\u00e4rer Injektion von Antisense-Oligonukleotiden in diesem \"humanisierten MECP2 gen-duplikation\"-Mausmodell beobachtet wurden, bei dem die Maus zwei menschliche MECP2-Allele und kein endogenes Maus-Allel tr\u00e4gt.<\/strong><\/p>\n\n\n\n<p><strong>La Verabreichung ha ridotto l'espressione di MeCP2 in tutto il corpo, ha attenuato la mia Verhaltensdefizite e ha reso pi\u00f9 stabile l'espressione di un gene regolatore di MeCP2 in modo dosabh\u00e4ngig e senza 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>ZUSAMMENFASSUNG DES ARTIKELS (in inglese):<\/strong><\/p>\n\n\n\n<p>Molte malattie, che sfociano in una forma di sofferenza, sono dovute a variazioni della copienza, e per queste malattie non sono state individuate soluzioni terapeutiche. La MECP2-Duplikationssyndrom \u00e8 una delle pi\u00f9 importanti neoplasie genomiche nei maschi e si basa su duplicazioni, che causano l'abdicazione del genogruppo della Methyl-CpG-Bindungsproteins 2 (MECP2). Abbiamo quindi dimostrato che la terapia con Antisense-Oligonukleotiden (ASO) pu\u00f2 ridurre la quantit\u00e0 di proteine MECP2 in un modello di Mausmodell e la duplicazione genetica di MECP2 e ridurre i sintomi caratteristici della sindrome.<\/p>\n\n\n\n<p>Dieses Mausmodell mit MECP2-Genduplikation Syndrome war jedoch Tr\u00e4ger eines transgenen menschlichen Allels und eines Mausallels, wobei letzteres vor dem Targeting durch das humanspezifische ASO-MECP2 gesch\u00fctzt war.<\/p>\n\n\n\n<p>La proteina MeCP2 \u00e8 una proteina con un'alta concentrazione. ASO dovrebbe quindi poter affermare che la quantit\u00e0 di MeCP2 non \u00e8 drasticamente ridotta, dato che ci\u00f2 causa la sindrome di Rett. Abbiamo quindi sviluppato un \"modello umanizzato di MECP2\" della sindrome di MECP2enduplikation, in cui il Maus ha due alleli menschlic MECP2 e nessun allele Maus endogeno. Con l'attivazione intrazerebroventricolare di ASO-MECP2 \u00e8 stato possibile ridurre l'espressione di MeCP2 in tutto il corpo della M\u00e4use. Inoltre, l'ASO-MECP2 ha attenuato la sindrome di Verhaltensdefizite e ha ridotto l'espressione di un gene regolatore di MeCP2, pi\u00f9 efficiente in termini di dosaggio e senza alcuna tossicit\u00e0. La verifica della presenza di ASO-MECP2 nel sistema nervoso centrale \u00e8 quindi in questo modello di uomo molto precisa e sicura, e fornisce un'analisi approfondita per la cura della sindrome da enduplikazione di 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\"><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\">Pubblicazione ansehen<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Shao et al. aus der Gruppe von Prof. Zoghbi (Baylor College of Medicine, Texas, USA) publizieren in der Zeitschrift Science Translational medicine einen Artikel mit dem Titel \u00ab\u00a0Antisense-Oligonucleotid-Therapie auf einem [&hellip;]<\/p>","protected":false},"author":1,"featured_media":11724,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[58],"tags":[],"class_list":["post-7365","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publikationen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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