{"id":67010,"date":"2025-02-28T08:28:04","date_gmt":"2025-02-28T07:28:04","guid":{"rendered":"https:\/\/helloproject.es\/vigilancia\/un-defecto-en-el-transporte-de-grasas-revela-la-causa-de-las-raras-crisis-metabolicas-infantiles\/"},"modified":"2025-02-28T08:28:04","modified_gmt":"2025-02-28T07:28:04","slug":"un-defecto-en-el-transporte-de-grasas-revela-la-causa-de-las-raras-crisis-metabolicas-infantiles","status":"publish","type":"post","link":"https:\/\/helloproject.es\/vigilancia\/un-defecto-en-el-transporte-de-grasas-revela-la-causa-de-las-raras-crisis-metabolicas-infantiles\/","title":{"rendered":"Un defecto en el transporte de grasas revela la causa de las raras crisis metab\u00f3licas infantiles"},"content":{"rendered":"<p>El trastorno por deficiencia del gen TANGO2 (TDD) es una enfermedad rara que afecta a un peque\u00f1o n\u00famero de pacientes en todo el mundo.\u00a0Un nuevo estudio realizado\u00a0por un equipo del Centro de Regulaci\u00f3n Gen\u00f3mica de Barcelona (CRG) arroja luz sobre un mecanismo molecular clave que podr\u00eda explicar la gravedad de las crisis metab\u00f3licas que sufren los ni\u00f1os y ni\u00f1as afectados. Los resultados se han publicado en\u00a0la revista\u00a0Journal of Cell Biology<\/p>\n<p>La\u00a0TDD se caracteriza por episodios de rabdomi\u00f3lisis y arritmias card\u00edacas, los cuales son desencadenados por estr\u00e9s f\u00edsico, como fiebre alta o infecciones virales.\u00a0<\/p>\n<p>Hay alrededor de 110 pacientes con esta enfermedad todo el mundo, 11 de los cuales est\u00e1n en Espa\u00f1a, aunque se cree que la cifra real podr\u00eda situarse entre los seis mil y nueve mil sin diagnosticar en el mundo, seg\u00fan el CRG.<\/p>\n<p>Los pacientes con TDD presentan dificultades para generar energ\u00eda a partir de los l\u00edpidos,\u00a0<\/p>\n<p>Los pacientes con esta patolog\u00eda rara presentan dificultades para generar energ\u00eda a partir de los l\u00edpidos, a diferencia de las c\u00e9lulas sanas que usan grasas para satisfacer las demandas energ\u00e9ticas del cuerpo, especialmente en el coraz\u00f3n.<\/p>\n<p>\u201cTANGO2 captura las grasas y las prepara para su combusti\u00f3n. Las c\u00e9lulas de los pacientes con TDD tienen una capacidad reducida para hacer esto, lo que priva a las c\u00e9lulas de las formas lip\u00eddicas adecuadas para obtener energ\u00eda\u201d, explica Agust\u00edn Luj\u00e1n, primer autor del estudio.<\/p>\n<p>El hallazgo m\u00e1s reciente demuestra que TANGO2 se une a la mol\u00e9cula de grasa acil-CoA, facilitando su transporte dentro de las c\u00e9lulas. Este proceso, esencial para la producci\u00f3n de energ\u00eda, no ocurre de forma eficiente en los pacientes con TDD, lo que contribuye a los episodios metab\u00f3licos.<\/p>\n<p>TANGO2 se une a la mol\u00e9cula de grasa acil-CoA, facilitando su transporte dentro de las c\u00e9lulas, un proceso clavel para la producci\u00f3n de energ\u00eda<\/p>\n<p>El descubrimiento facilitar el desarrollo de nuevas terapias. Actualmente, el \u00fanico tratamiento consiste en dosis elevadas de vitamina B5, aunque no se sabe con certeza c\u00f3mo este nutriente ayuda a prevenir las crisis metab\u00f3licas. \u00abLa vitamina B5 puede estar impulsando las v\u00edas de energ\u00eda residual que normalmente apoya TANGO2\u00bb, comenta\u00a0 Luj\u00e1n.<\/p>\n<p><a><\/a><\/p>\n<h2>Otras aplicaciones<\/h2>\n<p>A pesar de ser una enfermedad rara, los hallazgos podr\u00edan tener implicaciones para otras condiciones relacionadas con el metabolismo de las grasas, como enfermedades card\u00edacas o musculares. \u00abLa biolog\u00eda de las enfermedades raras puede ayudarnos a entender la salud humana en general\u00bb, afirma\u00a0Vivek Malhotra, l\u00edder de la investigaci\u00f3n.<\/p>\n<p>El equipo se centra ahora en estudiar con m\u00e1s detalle c\u00f3mo TANGO2 interact\u00faa con la acil-CoA y c\u00f3mo estos mecanismos pueden ser aprovechados para desarrollar nuevas terapias o m\u00e9todos de diagn\u00f3stico temprano.<\/p>\n<p>Referencia<\/p>\n<p>Lujan et al.\u00a0<a href=\"https:\/\/rupress.org\/jcb\/article-lookup\/doi\/10.1083\/jcb.202410001%20\" target=\"_blank\">Journal of Cell Biology<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>El trastorno por deficiencia del gen TANGO2 (TDD) es una enfermedad rara que afecta a un peque\u00f1o n\u00famero de pacientes en todo el mundo.\u00a0Un nuevo estudio realizado\u00a0por un equipo del Centro de Regulaci\u00f3n Gen\u00f3mica de Barcelona (CRG) arroja luz sobre un mecanismo molecular clave que podr\u00eda explicar la gravedad de las crisis metab\u00f3licas que sufren [&hellip;]<\/p>\n","protected":false},"author":5,"featured_media":0,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","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":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","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":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[5],"tags":[],"class_list":["post-67010","post","type-post","status-publish","format-standard","hentry","category-noticias"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v20.9 (Yoast SEO v26.9) - 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