{"id":10114,"date":"2021-01-06T00:07:36","date_gmt":"2021-01-06T05:07:36","guid":{"rendered":"https:\/\/nebula.org\/blog\/genetica-de-creutzfeldt-jakob-enfermedad-esporadica-jones-2020\/"},"modified":"2021-02-20T20:21:08","modified_gmt":"2021-02-21T01:21:08","slug":"genetica-de-creutzfeldt-jakob-enfermedad-esporadica-jones-2020","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/es\/genetica-de-creutzfeldt-jakob-enfermedad-esporadica-jones-2020\/","title":{"rendered":"Enfermedad de Creutzfeldt-Jakob espor\u00e1dica (Jones, 2020)"},"content":{"rendered":"\n<p><strong>T\u00cdTULO DEL ESTUDIO:<\/strong><a href=\"https:\/\/www.thelancet.com\/journals\/laneur\/article\/PIIS1474-4422(20)30273-8\/fulltext?rss=yes\"> Identificaci\u00f3n de nuevos loci de riesgo y conocimientos causales para la enfermedad de Creutzfeldt-Jakob espor\u00e1dica: un estudio de asociaci\u00f3n de todo el genoma<\/a><\/p>\n\n<p><strong>RESUMEN:<\/strong> Descubrimiento de 4 regiones gen\u00f3micas asociadas con la enfermedad espor\u00e1dica de Creutzfeldt-Jakob, una forma de enfermedad pri\u00f3nica neurodegenerativa.<\/p>\n\n<p><strong>VISI\u00d3N GENERAL:<\/strong> Las enfermedades pri\u00f3nicas ocurren en el cerebro cuando ciertas prote\u00ednas se pliegan en una configuraci\u00f3n incorrecta, lo que hace que se agreguen. La neurodegeneraci\u00f3n comienza a ocurrir como resultado de esta aglomeraci\u00f3n que conduce a una forma progresiva y fatal de demencia. Las enfermedades pri\u00f3nicas pueden ser hereditarias (familiares) o pueden ocurrir por el consumo de carne infectada (variante), pero se sabe que la gran mayor\u00eda de los casos ocurren espont\u00e1neamente (espor\u00e1dicos). Se sabe poco sobre lo que puede hacer que un individuo sea m\u00e1s susceptible a adquirir una forma de enfermedad pri\u00f3nica conocida como enfermedad espor\u00e1dica de Creutzfeldt-Jakob (sCJD). Este estudio de asociaci\u00f3n de todo el genoma examin\u00f3 a m\u00e1s de 5,000 individuos de ascendencia europea afectados con sCJD para comprender mejor la influencia de la gen\u00e9tica en la condici\u00f3n. Se encontr\u00f3 que cuatro regiones del genoma estaban fuertemente asociadas con el riesgo de la enfermedad. Adem\u00e1s de una variante en la prote\u00edna pri\u00f3nica en s\u00ed, el estudio encontr\u00f3 otras variantes cerca de los genes conocidos como GAL3ST1, STX6 y BMERB1.<\/p>\n\n<p><strong>\u00bfSAB\u00cdAS?<\/strong> La enfermedad de las vacas locas es un ejemplo de variante de la enfermedad de Creutzfeldt-Jakob. Aunque es extremadamente rara, la afecci\u00f3n se debe a la ingesti\u00f3n de tejido nervioso (como el cerebro) de un animal infectado. Sorprendentemente, las prote\u00ednas pri\u00f3nicas infecciosas pueden soportar el calor extremo y no se pueden neutralizar simplemente mediante la cocci\u00f3n como pat\u00f3genos como las bacterias. Incluso los procesos de esterilizaci\u00f3n utilizados por los hospitales no son efectivos para eliminar las 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 LA MUESTRA:<\/strong> M\u00e1s informaci\u00f3n sobre el<a href=\"https:\/\/nebula.org\/blog\/es\/nebulosa-biblioteca-desbloqueo-investigacion-genetica\/\"> Biblioteca de investigaci\u00f3n de nebulosa<\/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 de muestras espor&#xE1;dicas de la enfermedad de Creutzfeldt-Jakob\" class=\"wp-image-5154\" 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 ASOCIADAS A LA SCJD:<\/strong> rs179999, rs3747957, rs2267161, rs6498552<\/p>\n\n<p><strong>RECURSOS ADICIONALES:<\/strong><br\/><a href=\"http:\/\/www.prionalliance.org\/2013\/12\/02\/what-are-human-prion-diseases\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u00bfQu\u00e9 son las enfermedades pri\u00f3nicas humanas?<\/a><br\/><a href=\"https:\/\/www.nhs.uk\/conditions\/creutzfeldt-jakob-disease-cjd\/\" target=\"_blank\" rel=\"noreferrer noopener\">enfermedad de Creutzfeldt-Jakob<\/a><\/p>\n\n<p><strong>USTED TAMBI\u00c9N PODR\u00cdA ESTAR INTERESADO EN:<br\/><\/strong><a href=\"https:\/\/nebula.org\/blog\/es\/genetica-de-la-enfermedad-prionica-hidromiel-2009\/\"> Enfermedad por priones (Mead, 2009)<\/a><br\/><a href=\"https:\/\/nebula.org\/blog\/genetics-of-multiple-sclerosis-imsgc-2019\/\">Esclerosis m\u00faltiple (IMSGC, 2019)<\/a><br\/><a href=\"https:\/\/nebula.org\/blog\/genetics-of-alzheimers-disease-dumitrescu-2020\/\">Enfermedad de Alzheimer (Dumitrescu, 2020)<\/a><\/p>\n\n<p><strong>ACTUALIZACI\u00d3N SEMANAL:<\/strong> 2 de octubre de 2020<\/p>\n\n<p><br\/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>T\u00cdTULO DEL ESTUDIO: Identificaci\u00f3n de nuevos loci de riesgo y conocimientos causales para la enfermedad de Creutzfeldt-Jakob espor\u00e1dica: un estudio de asociaci\u00f3n de todo el genoma RESUMEN: Descubrimiento de 4 regiones gen\u00f3micas asociadas con la enfermedad espor\u00e1dica de Creutzfeldt-Jakob, una &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/es\/genetica-de-creutzfeldt-jakob-enfermedad-esporadica-jones-2020\/\"> <span class=\"screen-reader-text\">Enfermedad de Creutzfeldt-Jakob espor\u00e1dica (Jones, 2020)<\/span> Leer m\u00e1s \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":6899,"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":[4982],"tags":[],"class_list":["post-10114","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-informes"],"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\/es\/author\/garrett-dunlap\/"}]}},"_links":{"self":[{"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/posts\/10114","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/users\/12"}],"replies":[{"embeddable":true,"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/comments?post=10114"}],"version-history":[{"count":0,"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/posts\/10114\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/media\/6899"}],"wp:attachment":[{"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/media?parent=10114"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/categories?post=10114"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/nebula.org\/blog\/es\/wp-json\/wp\/v2\/tags?post=10114"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}