{"id":15973,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"https:\/\/dupmecp2.eu\/fenotipo-reversibile-in-un-modello-di-topo-umanizzato\/"},"modified":"2023-04-17T16:11:06","modified_gmt":"2023-04-17T16:11:06","slug":"fenotipo-reversibile-in-un-modello-di-topo-umanizzato","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/el\/fenotipo-reversibile-in-un-modello-di-topo-umanizzato\/","title":{"rendered":"\u0391\u03bd\u03b1\u03c3\u03c4\u03c1\u03ad\u03c8\u03b9\u03bc\u03b7 \u03b8\u03cd\u03c1\u03b1 \u03c3\u03b5 \u03ad\u03bd\u03b1 \u03bc\u03bf\u03bd\u03c4\u03ad\u03bb\u03bf \u03ba\u03bf\u03c1\u03c5\u03c6\u03ae\u03c2 \u03c0\u03bf\u03c5 \u03ad\u03c7\u03b5\u03b9 \u03bc\u03b5\u03c4\u03b1\u03c4\u03c1\u03b1\u03c0\u03b5\u03af \u03c3\u03b5 \u03b1\u03bd\u03b8\u03c1\u03c9\u03c0\u03bf\u03b3\u03b5\u03bd\u03ad\u03c2"},"content":{"rendered":"<p><strong>\u039f Shao \u03ba\u03b1\u03b9 \u03bf\u03b9 \u03c3\u03c5\u03bd\u03b5\u03c1\u03b3\u03ac\u03c4\u03b5\u03c2 \u03c4\u03bf\u03c5 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03bf\u03bc\u03ac\u03b4\u03b1 \u03c4\u03bf\u03c5 \u03ba\u03b1\u03b8\u03b7\u03b3\u03b7\u03c4\u03ae Zoghbi \u03c3\u03c4\u03bf Baylor College of Medicine \u03c3\u03c4\u03bf \u03a4\u03ad\u03be\u03b1\u03c2 \u03c4\u03c9\u03bd \u0397\u03a0\u0391 \u03b4\u03b7\u03bc\u03bf\u03c3\u03af\u03b5\u03c5\u03c3\u03b1\u03bd \u03c4\u03bf \u03ac\u03c1\u03b8\u03c1\u03bf \"Terapia con oligonucleotidi antisenso in un modello di topo umanizzato con Sindrome da Duplicazione di MECP2\" \u03c3\u03c4\u03b7\u03bd \u03b5\u03c0\u03b9\u03b8\u03b5\u03ce\u03c1\u03b7\u03c3\u03b7 Science Translational Medicine. <\/strong><\/p>\n\n\n\n<p><strong>\u039a\u03ac\u03b8\u03b5 \u03b5\u03af\u03b4\u03bf\u03c2 \u03ad\u03c7\u03b5\u03b9 \u03c4\u03bf \u03b4\u03b9\u03ba\u03cc \u03c4\u03bf\u03c5 geni. I geni codificano per le proteine che sono uniche e tipiche di ogni specie. E' possibile che le proteine umane o di topo siano leggermente diverse. \u03a4\u03bf \u03bc\u03bf\u03bd\u03c4\u03ad\u03bb\u03bf \u03c0\u03bf\u03c5 \u03c7\u03c1\u03b7\u03c3\u03b9\u03bc\u03bf\u03c0\u03bf\u03b9\u03ae\u03b8\u03b7\u03ba\u03b5 \u03c3\u03c4\u03bf \u03c0\u03b1\u03c1\u03cc\u03bd \u03ac\u03c1\u03b8\u03c1\u03bf, \u03c4\u03bf \u03bf\u03c0\u03bf\u03af\u03bf \u03bf\u03bd\u03bf\u03bc\u03ac\u03b6\u03b5\u03c4\u03b1\u03b9 \"\u03bc\u03bf\u03bd\u03c4\u03ad\u03bb\u03bf umanizzato\", \u03ba\u03b1\u03b8\u03b9\u03c3\u03c4\u03ac \u03b4\u03c5\u03bd\u03b1\u03c4\u03ae \u03c4\u03b7\u03bd \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03b1\u03be\u03b9\u03bf\u03bb\u03cc\u03b3\u03b7\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03b4\u03c1\u03b1\u03c3\u03c4\u03b9\u03ba\u03cc\u03c4\u03b7\u03c4\u03b1\u03c2 \u03c4\u03c9\u03bd \u03b1\u03bd\u03c4\u03b9\u03c3\u03b7\u03bc\u03b9\u03ba\u03ce\u03bd \u03bf\u03bb\u03b9\u03b3\u03bf\u03bd\u03bf\u03c5\u03ba\u03bb\u03b5\u03bf\u03c4\u03b9\u03b4\u03af\u03c9\u03bd, \u03b9\u03b4\u03af\u03c9\u03c2 \u03c3\u03b5 \u03c3\u03c7\u03ad\u03c3\u03b7 \u03bc\u03b5 \u03c4\u03b9\u03c2 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b5\u03c2 uman \u03c0\u03bf\u03c5 \u03c0\u03b1\u03c1\u03ac\u03b3\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03bf topo. E' quindi piu' vicino all'uso futuro di oligonucleotidi antisenso nell'uomo.<\/strong><\/p>\n\n\n\n<p><strong>Questo articolo presenta i risultati ottenuti tramite iniezione intracerebroventricolare di oligonucleotidi antisenso in questo modello di topo con \"MECP2 umanizzato\" in cui il topo porta due alleli umani di MECP2 e nessun allele endogeno.<\/strong><\/p>\n\n\n\n<p><strong>\u0397 \u03c3\u03bf\u03bc\u03b9\u03bd\u03b9\u03c3\u03c4\u03c1\u03b1\u03af\u03bd\u03c9\u03c3\u03b7 \u03b4\u03b9\u03ad\u03bb\u03c5\u03c3\u03b5 \u03c4\u03b7\u03bd \u03ad\u03ba\u03c6\u03c1\u03b1\u03c3\u03b7 \u03c4\u03bf\u03c5 MeCP2 \u03c3\u03c4\u03bf\u03bd \u03b5\u03b3\u03ba\u03ad\u03c6\u03b1\u03bb\u03bf \u03c4\u03b7\u03c2 \u03ba\u03bf\u03c1\u03c5\u03c6\u03ae\u03c2, \u03b1\u03bd\u03b1\u03ba\u03bf\u03c5\u03c6\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03c2 \u03c4\u03bf \u03ad\u03bb\u03bb\u03b5\u03b9\u03bc\u03bc\u03b1 \u03c3\u03c5\u03bc\u03c0\u03b5\u03c1\u03b9\u03c6\u03bf\u03c1\u03ac\u03c2 \u03ba\u03b1\u03b9 \u03b5\u03c0\u03b1\u03bd\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd\u03c4\u03b1\u03c2 \u03c4\u03b7\u03bd \u03ad\u03ba\u03c6\u03c1\u03b1\u03c3\u03b7 \u03c4\u03c9\u03bd \u03b1\u03bb\u03ba\u03bf\u03cd\u03bd\u03b9\u03c9\u03bd \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03c9\u03bd \u03c0\u03bf\u03c5 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c3\u03b5 \u03b8\u03ad\u03c3\u03b7 \u03bd\u03b1 \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03bf\u03cd\u03bd.<\/strong><\/p>\n\n\n\n<p>\u0398\u03b5\u03c1\u03b1\u03c0\u03b5\u03af\u03b1 \u03bc\u03b5 \u03bf\u03bb\u03b9\u03b3\u03bf\u03bd\u03bf\u03c5\u03ba\u03bb\u03b5\u03bf\u03c4\u03af\u03b4\u03b9\u03b1 \u03b1\u03bd\u03c4\u03b9-\u03b1\u03bd\u03c4\u03b9-\u03c3\u03c5\u03bd\u03b5\u03af\u03b4\u03b7\u03c3\u03b7\u03c2 \u03c3\u03b5 \u03ad\u03bd\u03b1 \u03b5\u03be\u03b1\u03bd\u03b8\u03c1\u03c9\u03c0\u03b9\u03c3\u03bc\u03ad\u03bd\u03bf \u03bc\u03bf\u03bd\u03c4\u03ad\u03bb\u03bf \u03c0\u03bf\u03bd\u03c4\u03b9\u03ba\u03bf\u03cd \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03c4\u03bf\u03c5 MECP2, Shao et al.<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>RIASSUNTO DELL'ARTICOLO:<\/strong><\/p>\n\n\n\n<p>\u03a0\u03bf\u03bb\u03bb\u03ad\u03c2 \u03b4\u03b9\u03b1\u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b5\u03c2 \u03bf\u03c6\u03b5\u03af\u03bb\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03c4\u03bf\u03c5 \u03b1\u03c1\u03b9\u03b8\u03bc\u03bf\u03cd \u03c4\u03c9\u03bd \u03b1\u03bd\u03c4\u03b9\u03b3\u03c1\u03ac\u03c6\u03c9\u03bd \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03b5\u03c0\u03af \u03c4\u03bf\u03c5 \u03c0\u03b1\u03c1\u03cc\u03bd\u03c4\u03bf\u03c2 \u03b4\u03b5\u03bd \u03c5\u03c0\u03ac\u03c1\u03c7\u03bf\u03c5\u03bd \u03b4\u03bf\u03ba\u03b9\u03bc\u03b1\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2 \u03b8\u03b5\u03c1\u03b1\u03c0\u03b5\u03c5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b5\u03c0\u03b9\u03bb\u03bf\u03b3\u03ad\u03c2 \u03b3\u03b9\u03b1 \u03b1\u03c5\u03c4\u03ae \u03c4\u03b7\u03bd \u03ba\u03b1\u03c4\u03b7\u03b3\u03bf\u03c1\u03af\u03b1 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03b9\u03ce\u03bd. La Sindrome da Duplicazione di MECP2 (MDS) e' uno dei piu' comuni riarrangiamenti genomici nei maschi e risulta dalla duplicazione del gene che codifica per la proteina MECP2. In passato, abbiamo dimostrato che la terapia con oligonucleotidi antisenso (ASO) puo' ridurre la quantita' di proteina MeCP2 nei topi modello e invertire il manifestarsi dei sintomi.<\/p>\n\n\n\n<p>Questo modello di topo porta un allele umano transgenico e un allele di topo, con quest'ultimo protetto dall'azione dell'oligonucleotide antisenso MECP2 specifico. \u0394\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03bf\u03c5 \u03cc\u03c4\u03b9 \u03b7 \u03c3\u03c5\u03b3\u03ba\u03ad\u03bd\u03c4\u03c1\u03c9\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7\u03c2 MeCP2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03bc\u03b9\u03b1 \u03c0\u03bf\u03bb\u03cd \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03c0\u03b1\u03c1\u03ac\u03bc\u03b5\u03c4\u03c1\u03bf\u03c2, \u03b7 \u03c0\u03bf\u03c3\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c4\u03c9\u03bd \u03b1\u03bd\u03c4\u03b9\u03b1\u03b9\u03c3\u03b8\u03b7\u03c4\u03b9\u03ba\u03ce\u03bd \u03bf\u03bb\u03b9\u03b3\u03bf\u03bd\u03bf\u03c5\u03ba\u03bb\u03b5\u03bf\u03c4\u03b9\u03b4\u03af\u03c9\u03bd \u03c0\u03c1\u03ad\u03c0\u03b5\u03b9 \u03bd\u03b1 \u03b4\u03bf\u03c3\u03bf\u03bb\u03bf\u03b3\u03b5\u03af\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03c4\u03ad\u03c4\u03bf\u03b9\u03bf \u03c4\u03c1\u03cc\u03c0\u03bf \u03ce\u03c3\u03c4\u03b5 \u03b7 \u03c0\u03bf\u03c3\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c4\u03b7\u03c2 MeCP2 \u03bd\u03b1 \u03bc\u03b7\u03bd \u03bc\u03b5\u03b9\u03ce\u03bd\u03b5\u03c4\u03b1\u03b9 \u03c5\u03c0\u03b5\u03c1\u03b2\u03bf\u03bb\u03b9\u03ba\u03ac, \u03c0\u03c1\u03bf\u03ba\u03b1\u03bb\u03ce\u03bd\u03c4\u03b1\u03c2 \u03ad\u03c4\u03c3\u03b9 \u03c4\u03bf Rett sindrome. \u0393\u03b9\u03b1 \u03c4\u03bf \u03bb\u03cc\u03b3\u03bf \u03b1\u03c5\u03c4\u03cc, \u03b4\u03b7\u03bc\u03b9\u03bf\u03c5\u03c1\u03b3\u03ae\u03c3\u03b1\u03bc\u03b5 \u03ad\u03bd\u03b1 \u03bc\u03bf\u03bd\u03c4\u03ad\u03bb\u03bf topo \u03bc\u03b5 \"MECP2 umanizzato\" \u03c4\u03bf \u03bf\u03c0\u03bf\u03af\u03bf \u03c6\u03ad\u03c1\u03b5\u03b9 \u03b4\u03cd\u03bf \u03b1\u03bd\u03b8\u03c1\u03ce\u03c0\u03b9\u03bd\u03b1 \u03b1\u03bb\u03bb\u03b7\u03bb\u03cc\u03bc\u03bf\u03c1\u03c6\u03b1 \u03c4\u03b7\u03c2 MECP2 \u03ba\u03b1\u03b9 \u03ba\u03b1\u03bd\u03ad\u03bd\u03b1 \u03b5\u03bd\u03b4\u03bf\u03b3\u03b5\u03bd\u03ad\u03c2 \u03b1\u03bb\u03bb\u03b7\u03bb\u03cc\u03bc\u03bf\u03c1\u03c6\u03bf \u03c4\u03b7\u03c2 topo. L'iniezione intracerebroventricolare di oligonucleotide antisenso riduce in maniera efficace la quantita' di proteina MECP2 prodotta nel cervello dei topi. \u0395\u03c0\u03b9\u03c0\u03bb\u03ad\u03bf\u03bd, \u03b7 \u03b8\u03b5\u03c1\u03b1\u03c0\u03b5\u03af\u03b1 \u03b1\u03c5\u03c4\u03ae \u03b5\u03af\u03bd\u03b1\u03b9 \u03b9\u03ba\u03b1\u03bd\u03ae \u03bd\u03b1 \u03bc\u03b5\u03c4\u03c1\u03b9\u03ac\u03c3\u03b5\u03b9 \u03b4\u03b9\u03ac\u03c6\u03bf\u03c1\u03b1 \u03b5\u03bb\u03bb\u03b5\u03af\u03bc\u03bc\u03b1\u03c4\u03b1 \u03c3\u03c5\u03bc\u03c0\u03b5\u03c1\u03b9\u03c6\u03bf\u03c1\u03ac\u03c2 \u03ba\u03b1\u03b9 \u03bd\u03b1 \u03b1\u03c0\u03bf\u03ba\u03b1\u03c4\u03b1\u03c3\u03c4\u03ae\u03c3\u03b5\u03b9 \u03c4\u03b7\u03bd \u03ad\u03ba\u03c6\u03c1\u03b1\u03c3\u03b7 \u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03c9\u03bd \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03ce\u03bd \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03c9\u03bd MeCP2 \u03bc\u03b5 \u03c4\u03c1\u03cc\u03c0\u03bf \u03c0\u03bf\u03c5 \u03b5\u03be\u03b1\u03c1\u03c4\u03ac\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b7 \u03b4\u03bf\u03c3\u03bf\u03bb\u03bf\u03b3\u03af\u03b1 \u03c4\u03bf\u03c5\u03c2 \u03ba\u03b1\u03b9 \u03c7\u03c9\u03c1\u03af\u03c2 \u03ba\u03b1\u03bc\u03af\u03b1 \u03c4\u03bf\u03be\u03b9\u03ba\u03cc\u03c4\u03b7\u03c4\u03b1. La somministrazione di oligonucleotidi antisenso a livello del sistema nervoso centrale e' quindi ben tollerata e benefica nel modello di topo e fornisce un approccio che potrebbe anche avere successo per la cura della Sindrome da Duplicazione di MECP2 nell'uomo.<\/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\">\u0394\u03b7\u03bc\u03bf\u03c3\u03af\u03b5\u03c5\u03c3\u03b7<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Shao e i suoi collaboratori del gruppo del Prof.ssa Zoghbi al Baylor College of Medicine in Texas, USA hanno pubblicato un articolo sulla rivista Science Translational Medicine intitolato \u201cTerapia con [&hellip;]<\/p>","protected":false},"author":1,"featured_media":13607,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[139],"tags":[],"class_list":["post-15973","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-pubblicazioni"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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