{"id":288913,"date":"2025-01-22T17:00:59","date_gmt":"2025-01-22T16:00:59","guid":{"rendered":"https:\/\/www.cbm.uam.es\/?p=288913"},"modified":"2025-01-21T15:46:34","modified_gmt":"2025-01-21T14:46:34","slug":"el-mayor-estudio-genetico-sobre-el-trastorno-bipolar-avanza-en-las-claves-de-la-enfermedad","status":"publish","type":"post","link":"https:\/\/www.cbm.uam.es\/index.php\/2025\/01\/22\/el-mayor-estudio-genetico-sobre-el-trastorno-bipolar-avanza-en-las-claves-de-la-enfermedad\/","title":{"rendered":"El mayor estudio gen\u00e9tico sobre el trastorno bipolar avanza en las claves de la enfermedad"},"content":{"rendered":"<p>El Consorcio de Psiquiatr\u00eda Gen\u00f3mica, una red internacional de investigadores a la que pertenece el Dr. <strong>Claudio Toma<\/strong>, del Centro de Biolog\u00eda Molecular Severo Ochoa (CBM- CSIC-UAM), ha completado <strong>el mayor estudio gen\u00e9tico realizado hasta la fecha sobre el trastorno bipolar<\/strong>. Este proyecto ha logrado avances fundamentales en la comprensi\u00f3n de esta enfermedad, que afecta a cerca de 50 millones de personas y es una de las principales causas de discapacidad a nivel mundial.<\/p>\n<p>Este trabajo, publicado en la revista <em>Nature<\/em>, representa un paso clave hacia la comprensi\u00f3n de las bases biol\u00f3gicas y gen\u00e9ticas del trastorno bipolar, lo que podr\u00eda abrir la puerta a futuros tratamientos personalizados y mejores estrategias de diagn\u00f3stico.<\/p>\n<p>A pesar de su alta heredabilidad (60-80%), gran parte de los factores gen\u00e9ticos que originan el trastorno bipolar siguen siendo desconocidos. Este ambicioso estudio <strong>ha analizado a m\u00e1s de 158.000 individuos<\/strong> con trastorno bipolar y 2,8 millones de controles, incluyendo poblaciones europeas, asi\u00e1ticas, afroamericanas y latinas.<\/p>\n<p>\u201cEl an\u00e1lisis nos ha permitido <strong>identificar 298 regiones gen\u00e9ticas asociadas con el trastorno<\/strong>, cuadruplicando los descubrimientos de estudios anteriores, y se han encontrado asociaciones gen\u00e9ticas espec\u00edficas en poblaciones asi\u00e1ticas orientales, lo que abre nuevas perspectivas para comprender c\u00f3mo var\u00eda el trastorno bipolar entre diferentes grupos \u00e9tnicos\u201d, indica el Dr. Toma.<\/p>\n<p>Asimismo, se han identificado diferencias gen\u00e9ticas entre los subtipos de esta condici\u00f3n: el tipo I, caracterizado por episodios man\u00edacos graves, muestra mayor relaci\u00f3n gen\u00e9tica con la esquizofrenia, mientras que el tipo II, asociado a episodios depresivos frecuentes y menor man\u00eda, comparte mayor similitud gen\u00e9tica con la depresi\u00f3n mayor y el TDAH.<\/p>\n<p>Un avance notable ha sido <strong>la identificaci\u00f3n de 36 genes directamente implicados en la biolog\u00eda del trastorno bipolar<\/strong>. Algunos presentan variantes raras que alteran gravemente las prote\u00ednas de los individuos afectados, subrayando c\u00f3mo estas variantes gen\u00e9ticas comunes y raras convergen en el desarrollo de la enfermedad.<\/p>\n<p>El estudio tambi\u00e9n ha vinculado se\u00f1ales gen\u00e9ticas con tipos espec\u00edficos de c\u00e9lulas cerebrales, como las interneuronas GABA\u00e9rgicas y las neuronas espinosas medianas, y sorprendentemente, con c\u00e9lulas fuera del sistema nervioso central, como las del intestino y el p\u00e1ncreas. Estos hallazgos ampl\u00edan la perspectiva biol\u00f3gica del trastorno bipolar, sugiriendo que <strong>otros \u00f3rganos aparte del cerebro podr\u00edan desempe\u00f1ar un papel relevante<\/strong> en su desarrollo.<\/p>\n<p>&nbsp;<\/p>\n<h3>Referencia<\/h3>\n<p>Genomics yields biological and phenotypic insights into bipolar disorder. <a href=\"https:\/\/www.nature.com\/articles\/s41586-024-08468-9\" target=\"_blank\" rel=\"noopener\">DOI: 10.1038\/s41586-024-08468-9<\/a><\/p>\n<h3><\/h3>\n<h3>Contacto<\/h3>\n<p>Comunicaci\u00f3n CBM &#8211; comunicacion@cbm.csic.es<\/p>\n","protected":false},"excerpt":{"rendered":"<p>El Consorcio de Psiquiatr\u00eda Gen\u00f3mica, una red internacional de investigadores a la que pertenece el Dr. Claudio Toma, del Centro de Biolog\u00eda Molecular Severo Ochoa (CBM- CSIC-UAM), ha completado el [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":288914,"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-288913","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 v27.2 - 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