{"id":10294,"date":"2021-01-06T00:25:10","date_gmt":"2021-01-06T05:25:10","guid":{"rendered":"https:\/\/nebula.org\/blog\/genetik-der-sporadischen-creutzfeldt-jakob-krankheit-jones-2020\/"},"modified":"2021-02-20T20:30:25","modified_gmt":"2021-02-21T01:30:25","slug":"genetik-der-sporadischen-creutzfeldt-jakob-krankheit-jones-2020","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/de\/genetik-der-sporadischen-creutzfeldt-jakob-krankheit-jones-2020\/","title":{"rendered":"Sporadische Creutzfeldt-Jakob-Krankheit (Jones, 2020)"},"content":{"rendered":"\n<p><strong>STUDIENTITEL:<\/strong><a href=\"https:\/\/www.thelancet.com\/journals\/laneur\/article\/PIIS1474-4422(20)30273-8\/fulltext?rss=yes\"> Identifizierung neuer Risikostandorte und kausaler Erkenntnisse f\u00fcr die sporadische Creutzfeldt-Jakob-Krankheit: eine genomweite Assoziationsstudie<\/a><\/p>\n\n<p><strong>ZUSAMMENFASSUNG:<\/strong> Entdeckung von 4 Genomregionen im Zusammenhang mit der sporadischen Creutzfeldt-Jakob-Krankheit, einer Form der neurodegenerativen Prionkrankheit.<\/p>\n\n<p><strong>\u00dcBERBLICK:<\/strong> Prionkrankheiten treten im Gehirn auf, wenn sich bestimmte Proteine in die falsche Konfiguration falten und sich zusammenlagern. Infolge dieser Verklumpung beginnt eine Neurodegeneration, die zu einer fortschreitenden und t\u00f6dlichen Form der Demenz f\u00fchrt. Prionkrankheiten k\u00f6nnen vererbt werden (famili\u00e4r) oder durch den Verzehr von infiziertem Fleisch auftreten (Variante), aber die \u00fcberwiegende Mehrheit der F\u00e4lle tritt bekannterma\u00dfen spontan auf (sporadisch). Es ist wenig dar\u00fcber bekannt, was eine Person anf\u00e4lliger f\u00fcr den Erwerb einer Form der Prionkrankheit machen kann, die als sporadische Creutzfeldt-Jakob-Krankheit (sCJD) bekannt ist. Diese genomweite Assoziationsstudie untersuchte \u00fcber 5.000 von sCJD betroffene Personen europ\u00e4ischer Abstammung, um den Einfluss der Genetik auf die Erkrankung besser zu verstehen. Es wurde festgestellt, dass vier Regionen des Genoms stark mit dem Krankheitsrisiko verbunden sind. Zus\u00e4tzlich zu einer Variante im Prionprotein selbst fand die Studie andere Varianten in der N\u00e4he von Genen, die als GAL3ST1, STX6 und BMERB1 bekannt sind.<\/p>\n\n<p><strong>HAST DU GEWUSST?<\/strong> Die Rinderwahnsinnskrankheit ist ein Beispiel f\u00fcr die Variante der Creutzfeldt-Jakob-Krankheit. Obwohl \u00e4u\u00dferst selten, resultiert die Erkrankung aus dem Verzehr von Nervengewebe (wie dem Gehirn) eines infizierten Tieres. Erstaunlicherweise k\u00f6nnen infekti\u00f6se Prionproteine mit extremer Hitze umgehen und k\u00f6nnen nicht einfach durch Kochen wie Krankheitserreger wie Bakterien neutralisiert werden. Selbst Sterilisationsverfahren in Krankenh\u00e4usern sind nicht wirksam, um die infekti\u00f6sen Proteine loszuwerden. <a href=\"https:\/\/www.thedailybeast.com\/10-facts-about-mad-cow-diseases\" target=\"_blank\" rel=\"noreferrer noopener\">[SOURCE]<\/a><\/p>\n\n<p><strong>BEISPIELERGEBNISSE:<\/strong> Erfahren Sie mehr \u00fcber die<a href=\"https:\/\/nebula.org\/blog\/de\/nebula-library-unlocking-gen-forschung\/\"> Nebula Research Library<\/a> . <\/p>\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/nebula.org\/whole-genome-sequencing\/\"><img decoding=\"async\" width=\"1024\" height=\"375\" src=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1024x375.png\" alt=\"sporadische Ergebnisse der Creutzfeldt-Jakob-Krankheitsprobe\" class=\"wp-image-5151\" srcset=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1024x375.png 1024w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-300x110.png 300w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-768x281.png 768w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1536x562.png 1536w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics.png 924w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/a><\/figure>\n\n<p><br\/><strong>sCJD-ASSOZIIERTE VARIANTEN:<\/strong> rs179999, rs3747957, rs2267161, rs6498552<\/p>\n\n<p><strong>ZUS\u00c4TZLICHE RESSOURCEN:<\/strong><br\/><a href=\"http:\/\/www.prionalliance.org\/2013\/12\/02\/what-are-human-prion-diseases\/\" target=\"_blank\" rel=\"noreferrer noopener\">Was sind menschliche Prionkrankheiten?<\/a><br\/><a href=\"https:\/\/www.nhs.uk\/conditions\/creutzfeldt-jakob-disease-cjd\/\" target=\"_blank\" rel=\"noreferrer noopener\">Creutzfeldt-Jakob-Krankheit<\/a><\/p>\n\n<p><strong>SIE K\u00d6NNEN AUCH INTERESSIERT SEIN an:<br\/><\/strong><a href=\"https:\/\/nebula.org\/blog\/de\/genetik-der-prion-krankheit-met-2009\/\"> Prion-Krankheit (Mead, 2009)<\/a><br\/><a href=\"https:\/\/nebula.org\/blog\/genetics-of-multiple-sclerosis-imsgc-2019\/\">Multiple Sklerose (IMSGC, 2019)<\/a><br\/><a href=\"https:\/\/nebula.org\/blog\/genetics-of-alzheimers-disease-dumitrescu-2020\/\">Alzheimer-Krankheit (Dumitrescu, 2020)<\/a><\/p>\n\n<p><strong>W\u00d6CHENTLICHES UPDATE:<\/strong> 2. Oktober 2020<\/p>\n\n<p><br\/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>STUDIENTITEL: Identifizierung neuer Risikostandorte und kausaler Erkenntnisse f\u00fcr die sporadische Creutzfeldt-Jakob-Krankheit: eine genomweite Assoziationsstudie ZUSAMMENFASSUNG: Entdeckung von 4 Genomregionen im Zusammenhang mit der sporadischen Creutzfeldt-Jakob-Krankheit, einer Form der neurodegenerativen Prionkrankheit. \u00dcBERBLICK: Prionkrankheiten treten im Gehirn auf, wenn sich bestimmte Proteine &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/de\/genetik-der-sporadischen-creutzfeldt-jakob-krankheit-jones-2020\/\"> <span class=\"screen-reader-text\">Sporadische Creutzfeldt-Jakob-Krankheit (Jones, 2020)<\/span> Read More \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":6896,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"site-sidebar-layout":"default","site-content-layout":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":""},"categories":[4980],"tags":[],"class_list":["post-10294","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-berichte"],"yoast_head":"<!-- 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