{"id":10696,"date":"2015-11-04T00:00:00","date_gmt":"2015-11-03T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/es\/blog\/2015\/11\/04\/crean-un-modelo-de-gusano-para-investigar-un-subtipo-de-ceguera-rara\/"},"modified":"2020-05-20T14:27:41","modified_gmt":"2020-05-20T12:27:41","slug":"crean-un-modelo-de-gusano-para-investigar-un-subtipo-de-ceguera-rara","status":"publish","type":"post","link":"https:\/\/idibell.cat\/es\/2015\/11\/crean-un-modelo-de-gusano-para-investigar-un-subtipo-de-ceguera-rara\/","title":{"rendered":"Crean un modelo de gusano para investigar un subtipo de ceguera rara"},"content":{"rendered":"<p><b><br \/> La Retinosis pigmentaria es una ceguera progresiva que afecta a m\u00e1s de un mill\u00f3n de personas en todo el mundo. Un subtipo de dicha enfermedad est\u00e1 causado por mutaciones en genes que producen prote\u00ednas responsables de un proceso de maduraci\u00f3n de ARN conocido como \u201c<em>splicing<\/em>\u201d. <b><br \/> Investigadores del grupo de gen\u00e9tica molecular humana del Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge, liderados por Juli\u00e1n Cer\u00f3n, han creado un modelo del gusano <em>C.elegans<\/em> que presenta las alteraciones gen\u00e9ticas hom\u00f3logas a las de la enfermedad en humanos. As\u00ed, este modelo abre una v\u00eda prometedora para entender la patolog\u00eda e investigar nuevas terapias eficientes. <b><br \/> El trabajo, financiado por la Fundaci\u00f3n La Marat\u00f3 de TV3, ha sido publicado en la revista RNA <b><br \/> <b><br \/> Los genes que producen prote\u00ednas de \u201c<em>splicing<\/em>\u201d se expresan en todas las c\u00e9lulas del organismo. Sin embargo, mutaciones en estos genes afectan solo a la retina donde producen la muerte de las c\u00e9lulas, y no a otros tejidos. Se trata de un misterio que aun no se ha resuelto. <b><br \/> El estudio, realizado principalmente por la estudiante de doctorado Karinna Rubio y los doctores Laura Fontrodona y David Aristiz\u00e1bal, combina transcript\u00f3mica, gen\u00e9tica y biolog\u00eda celular para crear un modelo \u00fanico en el que estudiar la Retinosis pigmentaria. <b><br \/> <b><br \/>Los investigadores han observado que inactivando en el gusano <em>C. elegans<\/em> los genes hom\u00f3logos a los causantes de la enfermedad, el animal tambi\u00e9n presenta una muerte celular espec\u00edficamente en un tipo celular del organismo. <b><br \/> Adem\u00e1s, este estudio propone una nueva hip\u00f3tesis, basada en la inestabilidad gen\u00f3mica de las c\u00e9lulas afectadas, para explicar la especificidad de la enfermedad en la retina. <b><br \/> El investigador Juli\u00e1n Cer\u00f3n ha explicado que \u201cactualmente el grupo est\u00e1 trabajando en reproducir en <em>C. elegans<\/em> las mutaciones que existen en pacientes. La gran similitud que presentan estos genes entre humanos y gusanos permitir\u00eda, mediante la t\u00e9cnica de CRISPR, crear animales \u201c<em>avatar<\/em>\u201d con la misma mutaci\u00f3n del paciente. Esto es prometedor ya que <em>C. elegans <\/em>se podr\u00eda convertir en una plataforma sobre la que ensayar f\u00e1rmacos de un modo personalizado\u201d. <b><br \/> <b><br \/> Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis. Rubio-Pe\u00f1a K, Fontrodona L, Aristiz\u00e1bal-Corrales D, Torres S, Cornes E, Garc\u00eda-Rodr\u00edguez FJ, Serrat X, Gonz\u00e1lez-Knowles D, Foissac S, Porta-De-La-Riva M, Cer\u00f3n J. <b><br \/>RNA. 2015 Oct 21. [Epub ahead of print] <b><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutaciones globales, patolog\u00eda local  Gusanos avatar  Referencia:<\/p>\n","protected":false},"author":6,"featured_media":10697,"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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[186,298,297],"tags":[275],"class_list":["post-10696","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-area-medicina-traslacional","category-modelos-de-enfermedad-en-c-elegans-programa-de-genes-enfermedad-y-terapia","category-programa-de-genes-enfermedad-y-terapia","tag-medicina-traslacional"],"publishpress_future_action":{"enabled":false,"date":"2024-12-25 20:00:53","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10696","targetHints":{"allow":["GET"]}}],"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=10696"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10696\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/10697"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=10696"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=10696"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=10696"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}