revista Haematologica<\/a>, involucr\u00f3 el an\u00e1lisis de muestras de ADN de 20 portadores de GATA2 y 8 individuos sanos. Los investigadores, tambi\u00e9n miembros del Programa de Traducci\u00f3n Cl\u00ednica de Medicina Regenerativa de Catalu\u00f1a (P-CMRC), utilizaron tecnolog\u00edas de secuenciaci\u00f3n avanzada para mapear los cambios epigen\u00e9ticos en el ADN, creando un perfil detallado del epigenoma de cada individuo.<\/p>\nSeg\u00fan Oskar Marin Bejar, investigador postdoctoral Marie Sk\u0142odowska-Curie en el IDIBELL y primer autor del estudio: \u201cDurante muchos a\u00f1os, los investigadores traslacionales y los cl\u00ednicos han centrado su atenci\u00f3n en la caracterizaci\u00f3n de mutaciones de ADN en genes espec\u00edficos asociados a la enfermedad; sin embargo, no podemos ignorar que las alteraciones en la expresi\u00f3n g\u00e9nica y los cambios epigen\u00e9ticos pueden tener un impacto en su progresi\u00f3n\u201d.<\/p>\n
Al comparar el epigenoma de ambos grupos, los investigadores pudieron identificar una firma de metilaci\u00f3n del ADN espec\u00edfica asociada con la deficiencia de GATA2, que podr\u00eda usarse en el futuro para diagnosticar antes y con m\u00e1s precisi\u00f3n la evoluci\u00f3n cl\u00ednica de la deficiencia de GATA2.<\/p>\n
El estudio proporciona informaci\u00f3n importante sobre los mecanismos subyacentes de la deficiencia de GATA2 y destaca el potencial de la caracterizaci\u00f3n del epigenoma como herramienta anal\u00edtica para los trastornos gen\u00e9ticos. Con m\u00e1s investigaci\u00f3n, esta metodolog\u00eda podr\u00eda ayudar a los m\u00e9dicos en el proceso de diagn\u00f3stico y en la toma de decisiones sobre el tratamiento m\u00e1s adecuado, desde enfermedades raras como la deficiencia de GATA2 hasta trastornos m\u00e1s comunes con un evento gen\u00e9tico temprano, como el c\u00e1ncer.<\/p>\n
El proyecto ha sido un esfuerzo de colaboraci\u00f3n entre la Fondazione Pisana per la Scienza ONLUS, el consorcio GATA2-HuMo, GESMD y el Instituto Josep Carreras, entre otros; adem\u00e1s, no hubiera sido posible sin las agencias de financiaci\u00f3n, especialmente EraPerMed y la subvenci\u00f3n inicial de la Asociaci\u00f3n Europea de Hematolog\u00eda (EHA).<\/p>\n","protected":false},"excerpt":{"rendered":"
Los resultados muestran que los pacientes con este trastorno presentan patrones gen\u00e9ticos y epigen\u00e9ticos anormales, lo que podr\u00eda contribuir al desarrollo de diversas manifestaciones cl\u00ednicas, como comprometer la capacidad de producci\u00f3n de c\u00e9lulas sangu\u00edneas.<\/p>\n","protected":false},"author":8,"featured_media":22283,"comment_status":"open","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 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":[321,356,201],"tags":[],"class_list":["post-22282","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-area-medicina-regenerativa","category-biologia-de-celulas-madre-hematopoyeticas-y-leucemogenesis","category-programa-de-medicina-regenerativa"],"publishpress_future_action":{"enabled":false,"date":"2025-04-11 00:24:45","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/22282","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/comments?post=22282"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/22282\/revisions"}],"predecessor-version":[{"id":22284,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/22282\/revisions\/22284"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/22283"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=22282"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=22282"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=22282"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}