{"id":7363,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T18:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/06\/14\/reversibler-phaenotyp-bei-maeusen\/"},"modified":"2022-11-13T13:19:33","modified_gmt":"2022-11-13T13:19:33","slug":"reversibler-phaenotyp-bei-maeusen","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/reversibler-phaenotyp-bei-maeusen\/","title":{"rendered":"Reversibler Ph\u00e4notyp bei M\u00e4usen"},"content":{"rendered":"<p><strong>Prof. Huda Zoghbi i wsp. (Baylor College of Medicine, Teksas, USA) opublikowali artyku\u0142 w Zeitschrift Nature zatytu\u0142owany \"Reversibler Ph\u00e4notyp bei M\u00e4usen durch die Verwendung von genetischer Rettung oder Antisense-Oligonukleotiden\". In diesem Artikel werden die Ergebnisse der Verwendung von Antisense-Oligonukleotiden (ASO) bei der Korrektur von MeCP2-Spiegeln und umgekehrt von Verhaltens-, molekularen und elektrophysiologischen St\u00f6rungen bei einem Tiermodell mit MeCP2-Genduplikation vorgestellt.<\/strong><\/p>\n\n\n\n<p>Odwr\u00f3cenie fenotyp\u00f3w u myszy z duplikacj\u0105 MECP2 za pomoc\u0105 ratunku genetycznego lub oligonukleotyd\u00f3w antysensownych, Huda Zoghbi <em>i in,<\/em> <em>Natura<\/em><strong> 528, <\/strong>123-126 (2015)<\/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: (\u00dcbersetzt aus dem Englischen):<\/strong><\/p>\n\n\n\n<p>Eine Variation der Kopienanzahl wurde h\u00e4ufig mit Entwicklungsverz\u00f6gerungen, geistiger Behinderung und Autismus in Verbindung gebracht. Zesp\u00f3\u0142 MECP2-Genduplikacji jest jednym z najcz\u0119stszych zaburze\u0144 genomowych u m\u0142odych ludzi i charakteryzuje si\u0119 spektrum autystycznym, ci\u0119\u017ck\u0105 niepe\u0142nosprawno\u015bci\u0105, dysfunkcj\u0105 ruchow\u0105, zaburzeniami l\u0119kowymi, napadami padaczkowymi, infekcjami \u015brodowiska i przedwczesn\u0105 \u015bmierci\u0105.<\/p>\n\n\n\n<p>Du\u017ce nasilenie deficyt\u00f3w, kt\u00f3re powstaj\u0105 w wyniku nadekspresji bia\u0142ek MeCP2, stanowi ogromne wyzwanie dla terapii opartych na biochemicznych podstawach. W zwi\u0105zku z tym badamy strategie terapeutyczne, kt\u00f3re opieraj\u0105 si\u0119 bezpo\u015brednio na bia\u0142ku MeCP2 i maj\u0105 potencja\u0142 do wykorzystania w terapii klinicznej.<\/p>\n\n\n\n<p>Pierwszym pytaniem, nad kt\u00f3rym si\u0119 zastanawiali\u015bmy, by\u0142o to, czy zaburzenia neurologiczne po wyst\u0105pieniu objaw\u00f3w s\u0105 odwracalne. Die Umkehrung von Ph\u00e4notypen bei symptom-hafteten erwachsenen M\u00e4usen w einigen Modellen des monogenen Verlusts von neurologischen Funktionen nachgewiesen, insbesondere dem Verlust von MeCP2 beim Rett-Syndrom. Dies deutet darauf hin, dass zumindest in einigen F\u00e4llen die Neuroanatomie ausreichend intakt bleiben kann, so dass die Korrektur der diesen St\u00f6rungen zugrunde liegenden molekularen Dysfunktion, eine gesunde Physiologie wiederherstellen kann.<\/p>\n\n\n\n<p>Bior\u0105c pod uwag\u0119 fakt, \u017ce w przypadku zespo\u0142u duplikacji MECP2 nie wyst\u0119puje neurodegeneracja (uszkodzenie uk\u0142adu nerwowego w m\u00f3zgu), uwa\u017camy, \u017ce normalny poziom MeCP2-Spiegel u pacjent\u00f3w z zespo\u0142em duplikacji MECP2 mo\u017ce przyczyni\u0107 si\u0119 do poprawy ich funkcji.<\/p>\n\n\n\n<p>Dzi\u0119ki opracowaniu i charakterystyce jednego z modeli MECP2-\u00fcberexprimierenden Mausmodells dowiedzieli\u015bmy si\u0119, \u017ce korrektur MeCP2-Spiegel powoduje defizyty w organizmie, zar\u00f3wno na poziomie molekularnym, jak i elektrofizjologicznym.<\/p>\n\n\n\n<p>Wir haben MeCP2 auch mithilfe einer Antisense-Oligonukleotid-Strategie (ASO) reduziert, die ein gr\u00f6\u00dferes Umwandlungspotenzial besitzt.<\/p>\n\n\n\n<p>Antysensowne oligonukleotydy s\u0105 ma\u0142ymi, zmodyfikowanymi nukleinami, kt\u00f3re mog\u0105 \u0142\u0105czy\u0107 si\u0119 selektywnie z transkrybowanym botenem-RNA (mRNA) i w ten spos\u00f3b stabilnie si\u0119 rozpada\u0107. Zosta\u0142y one pomy\u015blnie zastosowane do korekcji defekt\u00f3w w r\u00f3\u017cnych modelach mi\u0119\u015bni.<\/p>\n\n\n\n<p>Stwierdzamy, \u017ce antysensowny oligonukleotyd powoduje znaczn\u0105 redukcj\u0119 ph\u00e4notyps w objawowych, transgenicznych, erwachsenen M\u00e4usen z MECP2-Duplikation, a MECP2-Spiegel w limfoblastoiden Zellen von Patienten mit MECP2-Duplikation dosisabh\u00e4ngig korrigieren.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\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-white-color has-text-color has-background wp-element-button\" href=\"https:\/\/www.nature.com\/articles\/nature16159\" style=\"border-radius:10px;background-color:#f7a13f\">Publikation ansehen<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Prof. Huda Zoghbi et al. (Baylor College of Medicine, Texas, USA) ver\u00f6ffentlichen in der Zeitschrift Nature einen Artikel mit dem Titel \u00ab\u00a0Reversibler Ph\u00e4notyp bei M\u00e4usen durch die Verwendung von genetischer [&hellip;]<\/p>","protected":false},"author":1,"featured_media":6891,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[58],"tags":[],"class_list":["post-7363","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 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Reversibler Ph\u00e4notyp bei M\u00e4usen - 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\/reversibler-phaenotyp-bei-maeusen\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Reversibler Ph\u00e4notyp bei M\u00e4usen - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Prof. Huda Zoghbi et al. 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