{"id":18137,"date":"2021-08-10T10:23:16","date_gmt":"2021-08-10T08:23:16","guid":{"rendered":"https:\/\/idibell.cat\/es\/?p=18137"},"modified":"2021-08-10T10:23:35","modified_gmt":"2021-08-10T08:23:35","slug":"identifican-dos-nuevos-genes-implicados-en-enfermedades-del-desarrollo-del-cerebro","status":"publish","type":"post","link":"https:\/\/idibell.cat\/es\/2021\/08\/identifican-dos-nuevos-genes-implicados-en-enfermedades-del-desarrollo-del-cerebro\/","title":{"rendered":"Identifican dos nuevos genes implicados en enfermedades del desarrollo del cerebro"},"content":{"rendered":"<p>Ra\u00fal Est\u00e9vez, jefe del grupo de investigaci\u00f3n en <a href=\"https:\/\/idibell.cat\/es\/investigacion\/area-de-medicina-traslacional\/programa-de-genes-enfermedad-y-terapia\/fisiologia-y-patologia-de-la-relacion-funcional-glia-neurona\/\">fisiolog\u00eda y patolog\u00eda de la relaci\u00f3n funcional gl\u00eda-neurona<\/a> del IDIBELL, la Universidad de Barcelona, \u200b\u200bel Instituto de Neurociencias de la UB, y que tambi\u00e9n pertenece a la red CIBERER, ha participado en dos investigaciones que han permitido identificar los genes responsables de dos tipos de enfermedades que afectan el desarrollo del cerebro.<\/p>\n<p>Por un lado, el Dr. Est\u00e9vez ha participado en una investigaci\u00f3n coordinada por Pankaj B. Agrawal, del Boston Children s Hospital, publicada en la revista <a href=\"https:\/\/www.cell.com\/ajhg\/fulltext\/S0002-9297(21)00227-5\"><em>American Journal of Human Genetics<\/em><\/a>. En este estudio, han identificado mutaciones en el gen <em>CLCN3<\/em>, que codifica para un transportador de cloruro de los endosomas, en once pacientes con diferentes grados de afectaci\u00f3n en el desarrollo del cerebro. Los resultados muestran que algunas de las mutaciones que afectan a una sola copia de cromosomas provocan una ganancia funcional. En cambio, hay tambi\u00e9n un paciente que presenta dos mutaciones que llevan a una p\u00e9rdida de funci\u00f3n. As\u00ed, tanto la ganancia como la p\u00e9rdida de funci\u00f3n del transportador ClC-3 tienen consecuencias en el desarrollo del cerebro de los pacientes.<\/p>\n<p>Por otra parte, Ra\u00fal Estevez y Alfons Macaya, de la Vall d&#8217;Hebron, han liderado un estudio publicado en la revista <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24252\"><em>Human Mutation<\/em><\/a> que ha identificado mutaciones en pacientes con problemas de desarrollo cerebral en el gen <em>CHRM1<\/em>, que codifica para el receptor muscar\u00ednico M1, un receptor en la superficie de las neuronas. Los investigadores han observado que mutaciones en este receptor provocan que la prote\u00edna sea inestable, lo que lleva a una se\u00f1alizaci\u00f3n reducida.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><em>El Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge (IDIBELL) es un centro de investigaci\u00f3n en biomedicina creado en 2004. Est\u00e1 participado por el Hospital Universitario de Bellvitge y el Hospital de Viladecans del Instituto Catal\u00e1n de la Salud, el Instituto Catal\u00e1n de Oncolog\u00eda, la Universidad de Barcelona y el Ayuntamiento de L&#8217;Hospitalet de Llobregat.<\/em><\/p>\n<p><em>El IDIBELL es miembro del Campus de Excelencia Internacional de la Universidad de Barcelona HUBc y forma parte de la instituci\u00f3n CERCA de la Generalitat de Catalunya. En 2009 se convirti\u00f3 en uno de los cinco primeros centros de investigaci\u00f3n espa\u00f1oles acreditados como instituto de investigaci\u00f3n sanitaria por el Instituto de Salud Carlos III. Adem\u00e1s, forma parte del programa \u00abHR Excellence in Research\u00bb de la Uni\u00f3n Europea y es miembro de EATRIS y REGIC. Desde el a\u00f1o 2018, IDIBELL es un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Dos trabajos con la participaci\u00f3n de IDIBELL y la Universidad de Barcelona han identificado mutaciones en el gen CLCN3, codificante para un transportador de cloruro de los endosomas, y el gen CHRM1, correspondiente al receptor neuronal muscar\u00ednico M1, como responsables de defectos en el desarrollo del cerebro.<\/p>\n","protected":false},"author":8,"featured_media":18138,"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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