{"id":38609,"date":"2018-08-27T00:00:00","date_gmt":"2018-08-26T23:00:00","guid":{"rendered":"http:\/\/www.pcb.ub.edu\/\/descubren-una-proteina-clave-en-el-desarrollo-del-autismo\/"},"modified":"2020-11-16T16:20:45","modified_gmt":"2020-11-16T15:20:45","slug":"descubren-una-proteina-clave-en-el-desarrollo-del-autismo","status":"publish","type":"post","link":"https:\/\/www.pcb.ub.edu\/es\/descubren-una-proteina-clave-en-el-desarrollo-del-autismo\/","title":{"rendered":"Descubren una prote\u00edna clave en el desarrollo del autismo"},"content":{"rendered":"<p>La mayor\u00eda de los casos del trastorno del espectro autista no tienen asociado ning\u00fan rasgo espec\u00edfico en la apariencia externa de la persona ni s\u00edntomas neurol\u00f3gicos severos; s\u00f3lo se manifiesta por el inter\u00e9s restringido del paciente a ciertas actividades y la dificultad para relacionarse. En los \u00faltimos a\u00f1os ha habido importantes avances en el estudio del autismo mediante el an\u00e1lisis gen\u00e9tico de miles de estos pacientes. As\u00ed, se han encontrado correlaciones entre defectos de expresi\u00f3n y\/o funci\u00f3n de unos 200 genes y la susceptibilidad al autismo. Sin embargo, las bases funcionales por los que dichos genes se desregulan en los pacientes con autismo eran desconocidas.<\/p>\n<p>Ahora un\u00a0equipo coliderado por Ra\u00fal M\u00e9ndez,\u00a0investigador ICREA y jefe del laboratorio de\u00a0<a href=\"https:\/\/www.irbbarcelona.org\/es\/research\/translational-control-of-cell-cycle-and-differentiation\" target=\"_blank\" rel=\"noopener noreferrer\">Control Translacional del Ciclo Celular y Diferenciaci\u00f3n<\/a>\u00a0del IRB Barcelona, y Jos\u00e9 Lucas, miembro del CSIC y CIBERNED, revela en la revista Nature\u00a0que los defectos en CPEB4 provocan que la expresi\u00f3n de la mayor\u00eda de estos 200 genes se desregule.<\/p>\n<p>\u00abEste trabajo es un ejemplo de c\u00f3mo la expresi\u00f3n de cientos de genes tiene que estar perfectamente coordinada para el correcto funcionamiento de los \u00f3rganos y las c\u00e9lulas que lo componen. En este caso las neuronas y el cerebro\u201d, explica R\u00e1ul M\u00e9ndez.<\/p>\n<p>\u201cAl estudiar los cambios de expresi\u00f3n de prote\u00ednas en un modelo de rat\u00f3n con la actividad de la CPEB4 alterada, nos llevamos la sorpresa de que inclu\u00edan la mayor\u00eda de los genes de susceptibilidad al trastorno del espectro autista\u201d, apunta el coordinador del estudio Jos\u00e9 Lucas.<\/p>\n<p>\u201cConocer las bases biol\u00f3gicas del autismo puede facilitar el dise\u00f1o de futuras terapias experimentales y herramientas para el mejor diagn\u00f3stico de la enfermedad. Aunque requerir\u00e1 futuros estudios, la CPEB4 podr\u00eda ser una nueva diana terap\u00e9utica\u201d, concluyen los investigadores.<\/p>\n<p><strong>\u25baM\u00e1s\u00a0informaci\u00f3n: <\/strong>web del\u00a0<a href=\"https:\/\/www.irbbarcelona.org\/es\/news\/descubren-una-proteina-clave-en-el-desarrollo-del-autismo\" target=\"_blank\" rel=\"noopener noreferrer\">IRB Barcelona [+]<\/a><\/p>\n<p><strong>\u25baArt\u00edculo de referencia:\u00a0<\/strong>A. Parras, H. Anta, M. Santos-Galindo, V. Swarup, A. Elorza, J. L. Nieto Gonzalez, S. Pic\u00f3, I. H. Hern\u00e1ndez, J. I. D\u00edaz-Hern\u00e1ndez, E. Belloc, A. Rodolosse, N. N. Parikshak, O. Pe\u00f1agarikano, R. Fern\u00e1ndez-Chac\u00f3n, M. Irimia, P. Navarro, D. H. Geschwind, R. M\u00e9ndez y J. J. Lucas. \u00ab<a href=\"https:\/\/www.nature.com\/articles\/s41586-018-0423-5\" style=\"font-weight: 200\" target=\"_blank\" rel=\"noopener noreferrer\">Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing<\/a>\u00ab. <em>Nature<\/em> (2018). DOI: 10.1038\/s41586-018-0423-5<\/p>\n<p>\u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un equipo internacional coliderado\u00a0por\u00a0Ra\u00fal M\u00e9ndez, investigador del Instituto de Investigaci\u00f3n\u00a0Biom\u00e9dica (<a href=\"http:\/\/www.pcb.ub.edu\/portal\/es\/empresa?p_p_id=detallempresa_WAR_empleatsempresesportlet&amp;p_p_state=MAXIMIZED&amp;_detallempresa_WAR_empleatsempresesportlet_empresaId=ENT_000001&amp;_detallempresa_WAR_empleatsempresesportlet_redirect=%2Fportal%2Fes%2Fentitats\" target=\"_blank\" rel=\"noopener noreferrer\">IRB Barcelona<\/a>) en el PCB, y el cient\u00edfico Jos\u00e9 Lucas, del Consejo Superior de Investigaciones Cient\u00edficas (<a href=\"http:\/\/www.csic.es\/\" target=\"_blank\" rel=\"noopener noreferrer\">CSIC<\/a>) y del Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades\u00a0Neurodegenerativas (<a href=\"https:\/\/ciberned.es\/\" target=\"_blank\" rel=\"noopener noreferrer\">CIBERNED<\/a>), ha identificado que un regulador de la s\u00edntesis de prote\u00ednas, CPEB4,\u00a0est\u00e1 afectado en el cerbro de la mayor\u00eda de\u00a0pacientes con autismo. El trabajo se publica en la revista Nature.<\/p>\n<p>\u00a0<\/p>\n","protected":false},"author":1,"featured_media":24938,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[9],"tags":[],"class_list":["post-38609","post","type-post","status-publish","format-standard","has-post-thumbnail","category-sin-categorizar"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Descubren una prote\u00edna clave en el desarrollo del autismo - Parc Cient\u00edfic de Barcelona<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.pcb.ub.edu\/es\/descubren-una-proteina-clave-en-el-desarrollo-del-autismo\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Descubren una prote\u00edna clave en el desarrollo del autismo - Parc Cient\u00edfic de Barcelona\" \/>\n<meta property=\"og:description\" content=\"Un equipo internacional coliderado\u00a0por\u00a0Ra\u00fal M\u00e9ndez, investigador del Instituto de Investigaci\u00f3n\u00a0Biom\u00e9dica (IRB Barcelona) en el PCB, y el cient\u00edfico Jos\u00e9 Lucas, del Consejo Superior de Investigaciones Cient\u00edficas (CSIC) y del Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades\u00a0Neurodegenerativas (CIBERNED), ha identificado que un regulador de la s\u00edntesis de prote\u00ednas, CPEB4,\u00a0est\u00e1 afectado en el cerbro de la mayor\u00eda de\u00a0pacientes con autismo. 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