{"id":18723,"date":"2021-08-10T10:23:14","date_gmt":"2021-08-10T08:23:14","guid":{"rendered":"https:\/\/idibell.cat\/?p=18723"},"modified":"2021-08-10T10:23:41","modified_gmt":"2021-08-10T08:23:41","slug":"identifiquen-dos-nous-gens-implicats-en-malalties-del-desenvolupament-del-cervell","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2021\/08\/identifiquen-dos-nous-gens-implicats-en-malalties-del-desenvolupament-del-cervell\/","title":{"rendered":"Identifiquen dos nous gens implicats en malalties del desenvolupament del cervell"},"content":{"rendered":"<p>Ra\u00fal Est\u00e9vez, cap del <a href=\"https:\/\/idibell.cat\/recerca\/area-de-medicina-translacional\/programa-de-gens-malaltia-i-terapia\/fisiologia-i-patologia-de-la-relacio-funcional-glia-neurona\/\">grup de recerca en fisiologia i patologia de la relaci\u00f3 funcional glia-neurona<\/a> de l&#8217;IDIBELL, la Universitat de Barcelona, l\u2019Institut de Neuroci\u00e8ncies de la UB, i que tamb\u00e9 pertany a la xarxa CIBERER, ha participat en dues investigacions que han perm\u00e8s identificar els gens responsables de dos tipus de malalties que afecten el desenvolupament del cervell.<\/p>\n<p>Per una banda, el Dr. Est\u00e9vez ha participat en una investigaci\u00f3 coordinada per Pankaj B. Agrawal, del Boston Children&#8217;s Hospital, publicada a la revista <a href=\"https:\/\/www.cell.com\/ajhg\/fulltext\/S0002-9297(21)00227-5\"><em>American Journal of Human Genetics<\/em><\/a>. En aquest estudi, han identificat mutacions en el gen <em>CLCN3<\/em>, codificant per a un transportador de clorur dels endosomes, en onze pacients amb diferents graus d\u2019afectaci\u00f3 en el desenvolupament del cervell. Els resultats mostren que algunes de les mutacions que afecten una sola c\u00f2pia de cromosomes provoquen un guany de funci\u00f3. En canvi, hi ha tamb\u00e9 un pacient que presenta dues mutacions que porten a una p\u00e8rdua de funci\u00f3. Aix\u00ed, tant el guany com la p\u00e8rdua de funci\u00f3 del transportador ClC-3 tenen conseq\u00fc\u00e8ncies en el desenvolupament del cervell dels pacients.<\/p>\n<p>Per altra banda, Ra\u00fal Estevez i Alfons Macaya, de la Vall d&#8217;Hebron, han liderat un estudi publicat a la revista <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24252\"><em>Human Mutation<\/em><\/a> que ha identificat mutacions en pacients amb problemes en el desenvolupament cerebral en el gen <em>CHRM1<\/em>, que codifica pel receptor muscar\u00ednic M1, un receptor a la superf\u00edcie de les neurones. Els investigadors han observat que mutacions en aquest receptor provoquen que la prote\u00efna sigui inestable, el que porta a una senyalitzaci\u00f3 redu\u00efda.<\/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>Dos treballs on hi ha participat l\u2019IDIBELL i la Universitat de Barcelona han identificat mutacions en el gen CLCN3, codificant per un transportador de clorur dels endosomes, i el gen CHRM1, corresponen al receptor neuronal muscar\u00ednic M1, s\u00f3n responsables de defectes en el desenvolupament del cervell.<\/p>\n","protected":false},"author":8,"featured_media":18724,"comment_status":"closed","ping_status":"closed","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 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