{"id":23157,"date":"2023-03-09T10:47:39","date_gmt":"2023-03-09T09:47:39","guid":{"rendered":"https:\/\/idibell.cat\/?p=23157"},"modified":"2023-03-09T10:49:16","modified_gmt":"2023-03-09T09:49:16","slug":"un-nou-estudi-identifica-una-signatura-epigenetica-associada-a-la-deficiencia-de-gata2-un-trastorn-genetic-rar","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2023\/03\/un-nou-estudi-identifica-una-signatura-epigenetica-associada-a-la-deficiencia-de-gata2-un-trastorn-genetic-rar\/","title":{"rendered":"Un nou estudi identifica una signatura epigen\u00e8tica associada a la defici\u00e8ncia de GATA2, un trastorn gen\u00e8tic rar"},"content":{"rendered":"<p>El grup de <a href=\"https:\/\/idibell.cat\/recerca\/area-medicina-regenerativa\/programa-de-medicina-regenerativa\/biologia-de-cellules-mare-hematopoetiques-i-leucemogenesi\/\">Biologia de C\u00e8l\u00b7lules Mare Hematopo\u00e8tiques i Leucemog\u00e8nesi<\/a> de l&#8217;IDIBELL, dirigit per la Dra. Alessandra Giorgetti, professora associada de la Universitat de Barcelona, ha descobert un nivell addicional de regulaci\u00f3 g\u00e8nica associat a l&#8217;evoluci\u00f3 del d\u00e8ficit de GATA2, un trastorn gen\u00e8tic rar que pot tenir manifestacions cl\u00edniques hematol\u00f2giques com un tipus de leuc\u00e8mia. Ara, els investigadors han caracteritzat el genoma i l&#8217;epigenoma de pacients amb aquesta mutaci\u00f3 heredit\u00e0ria del gen GATA2 i han identificat un patr\u00f3 espec\u00edfic de metilaci\u00f3 de l&#8217;ADN.<\/p>\n<p>La metilaci\u00f3 de l&#8217;ADN \u00e9s un proc\u00e9s natural que modifica el genoma en afegir etiquetes qu\u00edmiques a certes regions. Aquestes etiquetes poden activar o desactivar els gens, cosa que afecta la funci\u00f3 de les c\u00e8l\u00b7lules. En individus que portadors de mutacions a GATA2, els investigadors han trobat que certes regions de l&#8217;ADN estaven anormalment metilades, cosa que podria explicar l&#8217;evoluci\u00f3 de la malaltia a manifestacions cl\u00edniques greus.<\/p>\n<p>L&#8217;estudi, publicat aquesta setmana a la <a href=\"https:\/\/haematologica.org\/article\/view\/haematol.2022.282305\">revista Haematologica<\/a>, va involucrar l\u2019an\u00e0lisi de mostres d\u2019ADN de 20 portadors de GATA2 i 8 individus sans. Els investigadors, tamb\u00e9 membres del Programa de Traducci\u00f3 Cl\u00ednica de Medicina Regenerativa de Catalunya (<a href=\"https:\/\/p-cmrc.cat\/\" target=\"_blank\" rel=\"noopener\">P-CMR[C]<\/a>), van utilitzar tecnologies de seq\u00fcenciaci\u00f3 avan\u00e7ada per mapejar els canvis epigen\u00e8tics a l&#8217;ADN, creant un perfil detallat de l&#8217;epigenoma de cada individu.<\/p>\n<p>Segons Oskar Marin Bejar, investigador postdoctoral Marie Sk\u0142odowska-Curie a l&#8217;IDIBELL i primer autor de l&#8217;estudi: \u201cDurant molts anys, els investigadors translacionals i els cl\u00ednics han centrat la seva atenci\u00f3 en la caracteritzaci\u00f3 de mutacions d&#8217;ADN en gens espec\u00edfics associats a la malaltia; no obstant, no podem ignorar que les alteracions en l&#8217;expressi\u00f3 g\u00e8nica i els canvis epigen\u00e8tics poden tenir un impacte en la seva progressi\u00f3\u201d.<\/p>\n<p>Al comparar l&#8217;epigenoma dels dos grups, els investigadors van poder identificar una signatura de metilaci\u00f3 de l&#8217;ADN espec\u00edfica associada a la defici\u00e8ncia de GATA2, que es podria fer servir en el futur per diagnosticar abans i amb m\u00e9s precisi\u00f3 l&#8217;evoluci\u00f3 cl\u00ednica de la defici\u00e8ncia de GATA2.<\/p>\n<p>L&#8217;estudi proporciona informaci\u00f3 important sobre els mecanismes subjacents de la defici\u00e8ncia de GATA2 i destaca el potencial de la caracteritzaci\u00f3 de l&#8217;epigenoma com a eina anal\u00edtica per als trastorns gen\u00e8tics. Amb m\u00e9s investigaci\u00f3, aquesta metodologia podria ajudar els metges en el proc\u00e9s de diagn\u00f2stic i en la presa de decisions sobre el tractament m\u00e9s adequat en malalties rares com la defici\u00e8ncia de GATA2 per\u00f2 tamb\u00e9 en trastorns m\u00e9s comuns amb un esdeveniment gen\u00e8tic primerenc, com el c\u00e0ncer.<\/p>\n<p>El projecte ha estat un esfor\u00e7 de col\u00b7laboraci\u00f3 entre la Fondazione Pisana per la Scienza ONLUS, el consorci GATA2-HuMo, GESMD i l&#8217;Institut Josep Carreras, entre d&#8217;altres; a m\u00e9s, no hagu\u00e9s estat possible sense les ag\u00e8ncies de finan\u00e7ament, especialment EraPerMed i la subvenci\u00f3 inicial de l&#8217;Associaci\u00f3 Europea d&#8217;Hematologia (EHA).<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Els resultats mostren que els pacients amb aquest trastorn presenten patrons gen\u00e8tics i epigen\u00e8tics anormals, cosa que podria contribuir al desenvolupament de diverses manifestacions cl\u00edniques, com ara comprometre la capacitat de producci\u00f3 de c\u00e8l\u00b7lules sangu\u00ednies.<\/p>\n","protected":false},"author":8,"featured_media":23158,"comment_status":"closed","ping_status":"open","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 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