La prote\u00edna MECP2 controla la actividad de centenares de genes en las neuronas. Cuando suceden mutaciones que causan su p\u00e9rdida de actividad aparece el s\u00edndrome de Rett, una enfermedad del neurodesarrollo que es la segunda causa m\u00e1s frecuente de retraso mental en las mujeres, despu\u00e9s del s\u00edndrome de Down.<\/p>\n
Una actividad incrementada de MECP2 tambi\u00e9n podr\u00eda alterar a las neuronas ya que hombres con copias extras de este gen tambi\u00e9n presentan retraso mental. Para conocer qu\u00e9 mecanismos est\u00e1n actuando en este caso, el laboratorio de Manel Esteller, Director del Programa de Epigen\u00e9tica y Biolog\u00eda del C\u00e1ncer del Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge (IDIBELL), Investigador ICREA y Profesor de Gen\u00e9tica de la Universidad de Barcelona, ha sobreexpresado la prote\u00edna MECP2 en neuronas y ha comprobado que causa un da\u00f1o neuronal importante. Los hallazgos se han publicado en la edici\u00f3n electr\u00f3nica de la revista Neurobiology of Disease<\/em>.<\/p>\n \u201cMECP2 act\u00faa como un gran interruptor de la luz para apagar o encender los genes de las neuronas. Las ni\u00f1as con S\u00edndrome de Rett tienen un defecto en el apagado de los genes, mientras que los hombres con retraso mental tienen las luces abiertas todo el d\u00eda\u201d explica Manel Esteller.<\/p>\n \u201cLo que hemos visto en relaci\u00f3n a esta alteraci\u00f3n, es que tener un exceso de MECP2 provoca que las c\u00e9lulas a partir de las cuales se desarrollan las neuronas, llamadas neuroblastos, dejan de dividirse y adem\u00e1s mueren m\u00e1s, por lo que su n\u00famero total se reduce. Adem\u00e1s cuando producen una neurona, \u00e9sta se coloca en lugares del sistema nervioso donde no deber\u00eda. La suma de estas alteraciones explicar\u00eda las alteraciones neurol\u00f3gicas presentes cuando un individuo experimenta una sobredosis de MECP2\u201d.<\/p>\n \u201cAunque los resultados proporcionan un notable conocimiento sobre los mecanismos implicados en la cl\u00ednica del S\u00edndrome de Rett y del Retraso Mental Asociado a Extra-Copias de MECP2, a\u00fan estamos lejos de encontrar una terapia efectiva para estas enfermedades, pero todo gran viaje empieza con un primer paso\u201d concluye el investigador. Referencia del art\u00edculo<\/p>\n","protected":false},"author":6,"featured_media":11013,"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":[184,320,286],"tags":[],"class_list":["post-11012","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-area-cancer","category-area-neurociencias","category-epigenetica-del-cancer-cancer"],"publishpress_future_action":{"enabled":false,"date":"2024-09-14 15:29:44","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/11012"}],"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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/comments?post=11012"}],"version-history":[{"count":4,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/11012\/revisions"}],"predecessor-version":[{"id":18847,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/11012\/revisions\/18847"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/11013"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=11012"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=11012"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=11012"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\n
\nPetazzi 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.<\/b><\/b><\/b><\/b><\/b><\/b><\/b><\/b><\/p>\n","protected":false},"excerpt":{"rendered":"