{"id":10663,"date":"2015-12-09T00:00:00","date_gmt":"2015-12-08T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/es\/blog\/2015\/12\/09\/descubren-una-causa-de-mutaciones-que-no-se-encuentran-en-el-material-genetico\/"},"modified":"2020-05-20T13:47:04","modified_gmt":"2020-05-20T11:47:04","slug":"descubren-una-causa-de-mutaciones-que-no-se-encuentran-en-el-material-genetico","status":"publish","type":"post","link":"https:\/\/idibell.cat\/es\/2015\/12\/descubren-una-causa-de-mutaciones-que-no-se-encuentran-en-el-material-genetico\/","title":{"rendered":"Descubren una causa de mutaciones que no se encuentran en el material gen\u00e9tico"},"content":{"rendered":"

Las prote\u00ednas son como lo ladrillos que forman nuestras c\u00e9lulas y se fabrican a partir de las ordenes que da nuestro material gen\u00e9tico, el ADN. En las enfermedades humanas las alteraciones del ADN acaban por tanto originando prote\u00ednas que no hacen su funcion normal, ya sea por exceso o por defecto. Pero recientemente se han empezado a encontrar alteraciones de las prote\u00ednas sin que haya un da\u00f1o evidente del gen que las ha producido.
Un art\u00edculo publicado en Oncogene <\/em>dirigido por Manel Esteller, Director del Programa de Epigen\u00e9tica y Biolog\u00eda del C\u00e1ncer del Instituto de Investigaciones Biom\u00e9dicas de Bellvitge (IDIBELL), Investigador ICREA y Profesor de Gen\u00e9tica de la Universidad de Barcelona, proporciona una explicaci\u00f3n para este fen\u00f3meno: la existencia de alteraciones en una molecula intermedia (ARN) que traslada la informaci\u00f3n contenida en el ADN a la prote\u00edna.
\u00abHemos encontrado que entre un 5-10% de los tumores de pulm\u00f3n, en vez de tener la dosis normal de un gen (dos copias, una en el cromosoma materno y otra en el paterno) poseen una sobredosis del mismo, alrededor de 10 copias extras del gen\u201d declara Manel Esteller, director del estudio.
\u00abEl gen identificado (denominado ADAR1) se encarga de regular el nivel de mutaciones en el ARN, es un gen editor. Las personas con un exceso de este gen presentan un desequilibrio en la composici\u00f3n de esta mol\u00e9cula que acaba originando prote\u00ednas an\u00f3malas que contribuyen al crecimiento de los tumores. Si estudiamos estos genes diana alterados no ver\u00edamos mutaciones en su ADN pero s\u00ed en la prote\u00edna a causa de estas alteraciones en la secuencia de la mol\u00e9cula intermedia, el ARN.
\u201cDe forma gr\u00e1fica seria como decir que ha habido un problema de \u2018Lost in Translation<\/em>\u2019 (Error en la traducci\u00f3n)\u201d explica Dr Esteller y finaliza: \u201cAhora ser\u00e1 importante saber si este tipo de alteraci\u00f3n es com\u00fan en el resto de tumores humanos, si ocurre de forma significativa en otras enfermedades y si hay alguna forma de usar este conocimiento para un mejor tratamiento\u201d. Art\u00edculo<\/strong>: Anad\u00f3n C, Guil S, Sim\u00f3-Riudalbas L, Moutinho C, Setien F, Mart\u00ednez-Card\u00fas A, Moran S, Villanueva A, Calaf M, Vidal A, Lazo PA, Zondervan I, Savola S, Kohno T, Yokota J, Ribas de Pouplana L, Esteller M<\/span>. Gene Amplification-Associated Overexpression of the RNA Editing Enzyme ADAR1 Enhances Human Lung Tumorigenesis. Oncogene, 2015 Dec 7. doi: 10.1038\/onc.2015.469. [Epub ahead of print]<\/p>\n","protected":false},"excerpt":{"rendered":"

Art\u00edculo<\/p>\n","protected":false},"author":6,"featured_media":10664,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"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":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[184,286],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-13 20:42:39","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10663"}],"collection":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/comments?post=10663"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10663\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/10664"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=10663"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=10663"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=10663"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}