La prote\u00efna MECP2 controla l’activitat de centenars de gens en les neurones. Quan succeeixen mutacions que causen la p\u00e8rdua d’activitat apareix la s\u00edndrome de Rett, una malaltia del neurodesenvolupament que \u00e9s la segona causa m\u00e9s freq\u00fcent de retard mental en les dones, despr\u00e9s de la s\u00edndrome de Down.<\/p>\n
Una activitat incrementada de MECP2 tamb\u00e9 podria alterar les neurones ja qu\u00e8 homes amb c\u00f2pies extres d’aquest gen tamb\u00e9 presenten retard mental. Per con\u00e8ixer quins mecanismes estan actuant en aquest segon cas, el laboratori de Manel Esteller, director del Programa d’Epigen\u00e8tica i Biologia del C\u00e0ncer de l’Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), Investigador ICREA i professor de Gen\u00e8tica de la Universitat de Barcelona, \u200b\u200bha sobreexpressat la prote\u00efna MECP2 en neurones i ha comprovat que causa un dany neuronal important. Les troballes s’han publicat a l’edici\u00f3 electr\u00f2nica de la revista Neurobiology of Disease.<\/p>\n
“MECP2 actua com un gran interruptor de la llum per apagar o encendre els gens de les neurones. Les nenes amb S\u00edndrome de Rett tenen un defecte en l’apagada dels gens, mentre que els homes amb retard mental tenen les llums obertes tot el dia”, explica Manel Esteller.<\/p>\n
“El que hem vist en relaci\u00f3 a aquesta alteraci\u00f3, \u00e9s que tenir un exc\u00e9s de MECP2 provoca que les c\u00e8l\u00b7lules a partir de les quals es desenvolupen les neurones, anomenades neuroblasts, deixen de dividir-se i m\u00e9s moren m\u00e9s, de manera que el seu nombre total redueix. A m\u00e9s quan produeixen una neurona, aquesta es col\u00b7loca en llocs del sistema nervi\u00f3s on no hauria. La suma d’aquestes alteracions explicaria les alteracions neurol\u00f2giques presents quan un individu experimenta una sobredosi de MECP2”.<\/p>\n
“Encara que els resultats proporcionen un notable coneixement sobre els mecanismes implicats en la cl\u00ednica de la S\u00edndrome de Rett i del Retard Mental Associat a c\u00f2pies extra de MECP2 , encara estem lluny de trobar una ter\u00e0pia efectiva per a aquestes malalties , per\u00f2 tot gran viatge comen\u00e7a amb un primer pas” conclou l’investigador. Petazzi P, Akizu N, Garcia A, Estar\u00e1s C, Martinez de Paz A, Rodr\u00edguez-Paredes M, Mart\u00ednez-Balb\u00e1s M, Huertas D, Esteller M. An Increase in MeCP2 Dosage Impairs Neural Tube Formation. Neurobiology of Disease<\/em>, DOI: 10.1016\/j.nbd.2014.03.009, 2014.<\/p>\n","protected":false},"excerpt":{"rendered":" La prote\u00efna MECP2 controla l’activitat de centenars de gens en les neurones. Quan succeeixen mutacions que causen la p\u00e8rdua d’activitat apareix la s\u00edndrome de Rett, una malaltia del neurodesenvolupament que \u00e9s la segona causa m\u00e9s freq\u00fcent de retard mental en les dones, despr\u00e9s de la s\u00edndrome de Down. Una activitat incrementada de MECP2 tamb\u00e9 podria […]<\/p>\n","protected":false},"author":6,"featured_media":11032,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","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":[1],"tags":[],"class_list":["post-8402","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar"],"publishpress_future_action":{"enabled":false,"date":"2024-09-14 23:00:45","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8402"}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=8402"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8402\/revisions"}],"predecessor-version":[{"id":19467,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8402\/revisions\/19467"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/11032"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8402"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8402"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8402"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}