{"id":291605,"date":"2025-08-29T10:00:19","date_gmt":"2025-08-29T08:00:19","guid":{"rendered":"https:\/\/www.cbm.uam.es\/?p=291605"},"modified":"2025-08-28T14:34:34","modified_gmt":"2025-08-28T12:34:34","slug":"avance-clave-en-la-genetica-del-trastorno-bipolar-descubren-genes-clave-implicados-en-la-enfermedad","status":"publish","type":"post","link":"https:\/\/www.cbm.uam.es\/index.php\/2025\/08\/29\/avance-clave-en-la-genetica-del-trastorno-bipolar-descubren-genes-clave-implicados-en-la-enfermedad\/","title":{"rendered":"Avance clave en la gen\u00e9tica del trastorno bipolar: descubren genes clave implicados en la enfermedad"},"content":{"rendered":"<p>Un nuevo estudio del Consorcio de Psiquiatr\u00eda Gen\u00f3mica, en el que participa el Dr. Claudio Toma, investigador del CSIC en el Centro de Biolog\u00eda Molecular Severo Ochoa (CBM-CSIC-UAM), ha logrado avanzar en la comprensi\u00f3n de los mecanismos gen\u00e9ticos del trastorno bipolar. Gracias a nuevas t\u00e9cnicas de an\u00e1lisis gen\u00e9tico, han identificado genes que podr\u00edan estar directamente relacionados con esta enfermedad mental.<\/p>\n<p>&nbsp;<\/p>\n<h3>Del mapa gen\u00e9tico a los genes concretos<\/h3>\n<p>Hasta ahora, los estudios gen\u00e9ticos ya hab\u00edan detectado m\u00e1s de 60 zonas del ADN humano que parecen estar relacionadas con el trastorno bipolar. Sin embargo, esas zonas eran muy amplias y no se sab\u00eda con exactitud qu\u00e9 cambios gen\u00e9ticos concretos (llamados <em>variantes<\/em>) eran los responsables, ni qu\u00e9 genes estaban realmente involucrados.<\/p>\n<p>Para afinar esa b\u00fasqueda, el equipo us\u00f3 t\u00e9cnicas de mapeo fino del genoma mediante complejos an\u00e1lisis computacionales, que permiten localizar con m\u00e1s precisi\u00f3n las variantes que contribuyen al riego de padecer la enfermedad. Utilizando una combinaci\u00f3n de 16 m\u00e9todos distintos \u2014incluyendo modelos estad\u00edsticos y datos biol\u00f3gicos sobre c\u00f3mo funciona el cerebro\u2014 consiguieron reducir la lista a 17 variantes gen\u00e9ticas con muchas probabilidades de estar implicadas funcionalmente a genes.<\/p>\n<p>\u201cEstas variantes est\u00e1n relacionadas con genes clave para el funcionamiento de las neuronas y el desarrollo del cerebro. Es decir, afectan procesos fundamentales del sistema nervioso, lo que podr\u00eda explicar parte del origen del trastorno\u201d, indica Toma. \u201cAlgunos de estos genes ya se conoc\u00edan por su papel en el cerebro, mientras que otros son nuevos candidatos a investigar.\u201d<\/p>\n<p>&nbsp;<\/p>\n<h3>Hacia una medicina personalizada en salud mental<\/h3>\n<p>Adem\u00e1s, los investigadores demostraron que estas variantes gen\u00e9ticas pueden mejorar las llamadas puntuaciones de riesgo gen\u00e9tico, una herramienta que sirve para estimar si una persona tiene un mayor riesgo hereditario de desarrollar una enfermedad. Esto es especialmente \u00fatil en enfermedades complejas como el trastorno bipolar, que dependen de la interacci\u00f3n de muchos genes distintos.<\/p>\n<p>Por \u00faltimo, el equipo ha desarrollado una nueva plataforma inform\u00e1tica de alto rendimiento, que permitir\u00e1 a otros investigadores seguir avanzando en este campo m\u00e1s r\u00e1pidamente y con mayor precisi\u00f3n.<\/p>\n<p>Este trabajo supone un avance hacia una medicina personalizada en salud mental, es decir, tratamientos y estrategias de prevenci\u00f3n adaptados al perfil gen\u00e9tico de cada persona. Para quienes viven con trastorno bipolar, estos descubrimientos abren nuevas v\u00edas de esperanza hacia mejores tratamientos en el futuro.<\/p>\n<p>&nbsp;<\/p>\n<h3>Referencia<\/h3>\n<p>Koromina M, Ravi A, Panagiotaropoulou G, et al. Fine-mapping genomic loci refines bipolar disorder risk genes. Nat Neurosci. 2025 Jul;28(7):1393-1403. doi: <a href=\"https:\/\/doi.org\/10.1038\/s41593-025-01998-z\">10.1038\/s41593-025-01998-z<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un nuevo estudio del Consorcio de Psiquiatr\u00eda Gen\u00f3mica, en el que participa el Dr. Claudio Toma, investigador del CSIC en el Centro de Biolog\u00eda Molecular Severo Ochoa (CBM-CSIC-UAM), ha logrado [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":291606,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[44,54],"tags":[],"class_list":["post-291605","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","category-scientific-article"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Avance clave en la gen\u00e9tica del trastorno bipolar: descubren genes clave implicados en la enfermedad - 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