{"id":12914,"date":"2021-01-31T17:15:56","date_gmt":"2021-01-31T22:15:56","guid":{"rendered":"https:\/\/nebula.org\/blog\/genetica-de-esporadica-creutzfeldt-jakob-doenca-jones-2020\/"},"modified":"2021-02-20T20:21:12","modified_gmt":"2021-02-21T01:21:12","slug":"genetica-de-esporadica-creutzfeldt-jakob-doenca-jones-2020","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/pt-br\/genetica-de-esporadica-creutzfeldt-jakob-doenca-jones-2020\/","title":{"rendered":"Doen\u00e7a espor\u00e1dica de Creutzfeldt-Jakob (Jones, 2020)"},"content":{"rendered":"\n<p><strong>T\u00cdTULO DO ESTUDO:<\/strong><a href=\"https:\/\/www.thelancet.com\/journals\/laneur\/article\/PIIS1474-4422(20)30273-8\/fulltext?rss=yes\"> Identifica\u00e7\u00e3o de novos loci de risco e percep\u00e7\u00f5es causais para a doen\u00e7a de Creutzfeldt-Jakob espor\u00e1dica: um estudo de associa\u00e7\u00e3o do genoma<\/a><\/p>\n\n<p><strong>RESUMO:<\/strong> Descoberta de 4 regi\u00f5es gen\u00f4micas associadas \u00e0 doen\u00e7a espor\u00e1dica de Creutzfeldt-Jakob, uma forma de doen\u00e7a neurodegenerativa do pr\u00edon.<\/p>\n\n<p><strong>VIS\u00c3O GERAL:<\/strong> As doen\u00e7as por pr\u00edons ocorrem no c\u00e9rebro quando certas prote\u00ednas se dobram na configura\u00e7\u00e3o errada, fazendo com que se agregem. A neurodegenera\u00e7\u00e3o come\u00e7a a ocorrer como resultado dessa aglomera\u00e7\u00e3o, levando a uma forma progressiva e fatal de dem\u00eancia. As doen\u00e7as por pr\u00edons podem ser heredit\u00e1rias (familiares) ou podem ocorrer pelo consumo de carne infectada (variante), mas a grande maioria dos casos \u00e9 conhecida por ocorrer espontaneamente (espor\u00e1dicos). Pouco se sabe sobre o que pode tornar um indiv\u00edduo mais suscet\u00edvel a adquirir uma forma de doen\u00e7a por pr\u00edon conhecida como doen\u00e7a espor\u00e1dica de Creutzfeldt-Jakob (sCJD). Este estudo de associa\u00e7\u00e3o do genoma examinou mais de 5.000 indiv\u00edduos de ascend\u00eancia europeia afetados com sCJD para compreender melhor a influ\u00eancia da gen\u00e9tica na doen\u00e7a. Quatro regi\u00f5es do genoma foram encontradas fortemente associadas ao risco da doen\u00e7a. Al\u00e9m de uma variante na pr\u00f3pria prote\u00edna pr\u00edon, o estudo encontrou outras variantes pr\u00f3ximas aos genes conhecidos como GAL3ST1, STX6 e BMERB1.<\/p>\n\n<p><strong>VOC\u00ca SABIA?<\/strong> A doen\u00e7a da vaca louca \u00e9 um exemplo da variante da doen\u00e7a de Creutzfeldt-Jakob. Embora extremamente raro, a condi\u00e7\u00e3o resulta da ingest\u00e3o de tecido nervoso (como o c\u00e9rebro) de um animal infectado. Surpreendentemente, as prote\u00ednas pr\u00edon infecciosas podem lidar com o calor extremo e n\u00e3o podem ser simplesmente neutralizadas por meio do cozimento, como pat\u00f3genos, como bact\u00e9rias. Mesmo os processos de esteriliza\u00e7\u00e3o usados por hospitais n\u00e3o s\u00e3o eficazes para eliminar as prote\u00ednas infecciosas. <a href=\"https:\/\/www.thedailybeast.com\/10-facts-about-mad-cow-diseases\" target=\"_blank\" rel=\"noreferrer noopener\">[SOURCE]<\/a><\/p>\n\n<p><strong>RESULTADOS DE AMOSTRA:<\/strong> Saiba mais sobre o<a href=\"https:\/\/nebula.org\/blog\/pt-br\/nebula-library-unlocking-genetic-research\/\"> 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=\"resultados espor&#xE1;dicos de amostra da doen&#xE7;a de Creutzfeldt-Jakob\" class=\"wp-image-12669\" 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>VARIANTES ASSOCIADOS A sCJD:<\/strong> rs179999, rs3747957, rs2267161, rs6498552<\/p>\n\n<p><strong>RECURSOS ADICIONAIS:<\/strong><br\/><a href=\"http:\/\/www.prionalliance.org\/2013\/12\/02\/what-are-human-prion-diseases\/\" target=\"_blank\" rel=\"noreferrer noopener\">O que s\u00e3o doen\u00e7as humanas por pr\u00edons?<\/a><br\/><a href=\"https:\/\/www.nhs.uk\/conditions\/creutzfeldt-jakob-disease-cjd\/\" target=\"_blank\" rel=\"noreferrer noopener\">Doen\u00e7a de Creutzfeldt-Jakob<\/a><\/p>\n\n<p><strong>VOC\u00ca TAMB\u00c9M PODE ESTAR INTERESSADO EM:<br\/><\/strong><a href=\"https:\/\/nebula.org\/blog\/pt-br\/genetics-of-prion-disease-mead-2009\/\"> Doen\u00e7a de Prion (Mead, 2009)<\/a><br\/><a href=\"https:\/\/nebula.org\/blog\/genetics-of-multiple-sclerosis-imsgc-2019\/\">Esclerose m\u00faltipla (IMSGC, 2019)<\/a><br\/><a href=\"https:\/\/nebula.org\/blog\/genetics-of-alzheimers-disease-dumitrescu-2020\/\">Doen\u00e7a de Alzheimer (Dumitrescu, 2020)<\/a><\/p>\n\n<p><strong>ATUALIZA\u00c7\u00c3O SEMANAL:<\/strong> 2 de outubro de 2020<\/p>\n\n<p><br\/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>T\u00cdTULO DO ESTUDO: Identifica\u00e7\u00e3o de novos loci de risco e percep\u00e7\u00f5es causais para a doen\u00e7a de Creutzfeldt-Jakob espor\u00e1dica: um estudo de associa\u00e7\u00e3o do genoma RESUMO: Descoberta de 4 regi\u00f5es gen\u00f4micas associadas \u00e0 doen\u00e7a espor\u00e1dica de Creutzfeldt-Jakob, uma forma de doen\u00e7a &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/pt-br\/genetica-de-esporadica-creutzfeldt-jakob-doenca-jones-2020\/\"> <span class=\"screen-reader-text\">Doen\u00e7a espor\u00e1dica de Creutzfeldt-Jakob (Jones, 2020)<\/span> Leia mais \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":12918,"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":[4999],"tags":[],"class_list":["post-12914","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-reports-pt-br"],"yoast_head":"<!-- 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He earned an M.S. and is currently a Ph.D. Candidate in the Biological and Biomedical Sciences (BBS) Ph.D. program at Harvard University.\u00a0He has experience in science policy as an intern at the Science and Innovation Network where he assisted in the science diplomacy functions of the British Consulate-General and as a research associate at TScan Therapeutics. He is also interested in science communication and writing. You can read more about Garrett's experience and publications on LinkedIn and ORCID.","sameAs":["https:\/\/nebula.org\/whole-genome-sequencing\/"],"url":"https:\/\/nebula.org\/blog\/pt-br\/author\/garrett-dunlap\/"}]}},"_links":{"self":[{"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/posts\/12914","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/users\/12"}],"replies":[{"embeddable":true,"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/comments?post=12914"}],"version-history":[{"count":0,"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/posts\/12914\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/media\/12918"}],"wp:attachment":[{"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/media?parent=12914"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/categories?post=12914"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/nebula.org\/blog\/pt-br\/wp-json\/wp\/v2\/tags?post=12914"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}