{"id":3089,"date":"2021-02-27T12:02:00","date_gmt":"2021-02-27T11:02:00","guid":{"rendered":"https:\/\/www.adntro.com\/?p=3089"},"modified":"2025-08-04T12:07:35","modified_gmt":"2025-08-04T10:07:35","slug":"como-de-frecuente-son-las-enfermedades-raras","status":"publish","type":"post","link":"https:\/\/adntro.com\/de\/blog\/genetische-kuriositaten\/wie-oft-selten-krankheiten\/","title":{"rendered":"Wie h\u00e4ufig sind seltene Krankheiten?"},"content":{"rendered":"<p>Gene enthalten bekanntlich die Informationen zur Herstellung aller Proteine in unserem K\u00f6rper. Darunter befinden sich Proteine, die als Ubiquitinligasen bezeichnet werden und deren Hauptfunktion in der Regulierung verschiedener biologischer Prozesse besteht, indem sie die Expression verschiedener Proteine kontrollieren. Dieser Mechanismus ist als Ubiquitinierung bekannt und die markierten Proteine werden im Proteasom (ein Proteinkomplex, der f\u00fcr den Abbau unn\u00f6tiger oder besch\u00e4digter Proteine verantwortlich ist) abgebaut.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"395\" height=\"196\" src=\"http:\/\/adntro.com\/wp-content\/uploads\/2021\/08\/ubiquitinacion-proteosoma.png\" alt=\"Ubiquitinierung\" class=\"wp-image-3380\" srcset=\"https:\/\/adntro.com\/wp-content\/uploads\/2021\/08\/ubiquitinacion-proteosoma.png 395w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/08\/ubiquitinacion-proteosoma-300x149.png 300w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/08\/ubiquitinacion-proteosoma-18x9.png 18w\" sizes=\"(max-width: 395px) 100vw, 395px\" \/><\/figure>\n<\/div>\n\n\n<p>Es gibt viele genetische Erkrankungen des Menschen, die durch das Auftreten pathogener Varianten in Genen verursacht werden, die diese Ubiquitine kodieren. Und innerhalb dieser riesigen Familie von Genen werden wir eines davon hervorheben, das Gen <em>RNF125<\/em>, die bis vor wenigen Jahren mit keiner Krankheit in Verbindung gebracht wurde.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Studien zur Next-Generation-Sequenzierung oder parallelen Massensequenzierung (NGS)<em>Sequenzierung der n\u00e4chsten Generation<\/em>\u201c hat es erm\u00f6glicht, mehrere Familien mit Varianten in diesem Gen zu identifizieren, die alle gemeinsamen klinischen Merkmale aufweisen, unter denen folgende hervorstechen: postnatales Wachstum, neonatale Hypoglyk\u00e4mie, wiederkehrende entz\u00fcndliche Erkrankungen, neurologische Entwicklungsver\u00e4nderungen und charakteristische klinische Merkmale des Gesichts .<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Diese Krankheit, verursacht durch Mutationen im Gen <em>RNF125<\/em>, ist derzeit bekannt als <strong><em><a href=\"https:\/\/elpais.com\/ciencia\/2021-11-17\/el-sindrome-de-tenorio-una-enfermedad-nueva-con-21-pacientes-conocidos.html\">Tenorio-Syndrom<\/a><\/em><\/strong>, ein Name, der von der John Hopkins University und der McKusick-Nathans-Abteilung f\u00fcr genetische Medizin zu Ehren der Forschergruppe und insbesondere des Erstautors der Originalpublikation gepr\u00e4gt wurde.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Derzeit gibt es ungef\u00e4hr einige <strong>19 F\u00e4lle weltweit<\/strong>, was sehr wichtig ist, dieser Art von <strong>seltene Krankheiten<\/strong>. Die Erkenntnisse der Genforschung sind faszinierend, wie die Beschreibung dieser neuen Krankheit zeigt.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Finden Sie heraus, was in Ihrer DNA steckt mit unserem <a href=\"https:\/\/adntro.com\/de\/\">DNA-Tests<\/a>!<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Weitere Informationen finden Sie im Originalbeitrag: <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/abs\/10.1002\/humu.22689?cookieSet=1\">https:\/\/onlinelibrary.wiley.com\/doi\/abs\/10.1002\/humu.22689?cookieSet=1<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Gene enthalten bekanntlich die Informationen zur Herstellung aller Proteine in unserem K\u00f6rper. Darunter befinden sich Proteine, die als Ubiquitinligasen bezeichnet werden und deren Hauptfunktion in der Regulierung verschiedener biologischer Prozesse besteht, indem sie die Expression verschiedener Proteine kontrollieren. Dieser Mechanismus ist als Ubiquitinierung bekannt und Proteine [\u2026]<\/p>","protected":false},"author":9,"featured_media":3380,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[192],"tags":[42,111,18,112,113,114,93],"class_list":["post-3089","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-curiosidades-geneticas","tag-adntro","tag-enfermedades-raras","tag-genetica","tag-proteosoma","tag-sindrome-de-tenorio","tag-ubiquitinas","tag-variantes-geneticas"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>\u00bfC\u00f3mo de frecuentes son las enfermedades raras? | ADNTRO<\/title>\n<meta name=\"description\" content=\"\u00bfC\u00f3mo de frecuentes son las enfermedades raras? 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