{"id":24055,"date":"2023-07-25T10:00:17","date_gmt":"2023-07-25T08:00:17","guid":{"rendered":"https:\/\/idibell.cat\/?p=24055"},"modified":"2023-07-24T17:13:50","modified_gmt":"2023-07-24T15:13:50","slug":"investigadors-didibell-i-ciber-identifiquen-una-nova-malaltia-genetica-que-afecta-el-desenvolupament-del-sistema-nervios-i-provoca-insuficiencia-hepatica","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2023\/07\/investigadors-didibell-i-ciber-identifiquen-una-nova-malaltia-genetica-que-afecta-el-desenvolupament-del-sistema-nervios-i-provoca-insuficiencia-hepatica\/","title":{"rendered":"Investigadors d&#8217;IDIBELL i CIBER identifiquen una nova malaltia gen\u00e8tica que afecta el desenvolupament del sistema nervi\u00f3s i provoca insufici\u00e8ncia hep\u00e0tica"},"content":{"rendered":"<p>El laboratori de <a href=\"https:\/\/idibell.cat\/recerca\/area-de-neurociencies\/programa-de-neurociencies\/malalties-neurometaboliques\/\">Malalties Neurometab\u00f2liques<\/a> de l&#8217;IDIBELL, mitjan\u00e7ant l&#8217;aplicaci\u00f3 de tecnologia de seq\u00fcenciaci\u00f3 de genoma complet i algorismes computacionals avan\u00e7ats, ha liderat un innovador estudi que ha identificat una nova malaltia rara causada per defectes a la prote\u00efna RINT1. Aquesta prote\u00efna exerceix un paper crucial en la regulaci\u00f3 del metabolisme dels greixos i la comunicaci\u00f3 intracel\u00b7lular de la producci\u00f3 d&#8217;energia. Els resultats de la investigaci\u00f3 es publiquen aquesta setmana a la revista <a href=\"https:\/\/www.jci.org\/articles\/view\/162836\">Journal of Clinical Investigation<\/a>, sent destacats a la portada.<\/p>\n<p>Aquest nou trastorn gen\u00e8tic minoritari es manifesta en la inf\u00e0ncia i provoca s\u00edmptomes neurol\u00f2gics, com ara problemes d&#8217;estabilitat i equilibri en la marxa (at\u00e0xia), rigidesa a les extremitats inferiors (parapar\u00e8sia esp\u00e0stica), atr\u00f2fia del nervi \u00f2ptic i malformacions esquel\u00e8tiques, a m\u00e9s d&#8217;un retard al neurodesenvolupament. Alguns pacients poden experimentar fallades hep\u00e0tiques fulminants, fins i tot abans de desenvolupar s\u00edmptomes neurol\u00f2gics.<\/p>\n<p>La Dra. Aurora Pujol, coordinadora de l&#8217;estudi a l&#8217;IDIBELL, membre del CIBER de Malalties Rares (CIBERER) i Professora de Recerca ICREA, afirma: &#8220;<em>Aquest descobriment permetr\u00e0 posar nom i cognoms a la malaltia de nens que acudeixen a l&#8217;UCI per una insufici\u00e8ncia hep\u00e0tica, o presenten un retard en el neurodesenvolupament, facilitant el diagn\u00f2stic de nous casos<\/em>&#8220;. I segueix: &#8220;<em>Les fam\u00edlies que hem identificat en aquest estudi portaven 10 anys sense resposta; ara que tenim un diagn\u00f2stic, s&#8217;obre la porta a trobar un tractament. Aquest tipus de projectes ens permeten a m\u00e9s, expandir el coneixement cient\u00edfic i respondre preguntes clau sobre la regulaci\u00f3 del metabolisme lip\u00eddic a nivell cel\u00b7lular i el seu impacte en cervell i fetge<\/em>\u201d.<\/p>\n<p>Aquest projecte ha estat finan\u00e7at gr\u00e0cies al suport del CIBERER, La Marat\u00f3 de TV3, el projecte PERIS-URDCat de Medicina Gen\u00f2mica del Departament de Salut de la Generalitat de Catalunya, la Fundaci\u00f3 Hesperia i el Ministeri de Sanitat (FIS); i s\u2019ha dut a terme gr\u00e0cies a la col\u00b7laboraci\u00f3 amb reconeguts experts internacionals com el Professor Jean Laurent Casanova (Rockefeller University i Imagine Institute Paris), la Dra. Maria Vazquez Cancela (Hospital Pedi\u00e0tric Teresa Herrera, la Corunya) i el Dr. Agust\u00ed Rodriguez -Palmer (Hospital Germans Trias, Badalona).<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><em>L\u2019Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l&#8217;Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l&#8217;Institut Catal\u00e0 de la Salut, l&#8217;Institut Catal\u00e0 d&#8217;Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\n<p><em>L\u2019IDIBELL \u00e9s membre del Campus d&#8217;Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L&#8217;any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutacions a RINT1 estarien provocant una desregulaci\u00f3 del metabolisme dels greixos i la comunicaci\u00f3 intracel\u00b7lular de la producci\u00f3 d&#8217;energia. Es tracta d&#8217;un aven\u00e7 significatiu en la comprensi\u00f3 d&#8217;aquesta malaltia i obre noves perspectives per al diagn\u00f2stic i el possible tractament en el futur.<\/p>\n","protected":false},"author":8,"featured_media":24056,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","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":[416,340,457],"tags":[],"class_list":["post-24055","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-malalties-neurologiques-i-neurogenetica","category-neurociencies","category-p-de-neurociencies"],"publishpress_future_action":{"enabled":false,"date":"2025-01-29 04:51:23","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/24055","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=24055"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/24055\/revisions"}],"predecessor-version":[{"id":24057,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/24055\/revisions\/24057"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/24056"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=24055"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=24055"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=24055"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}