El cerebelo es el centro responsable de la coordinaci\u00f3n motora en los vertebrados. Las alteraciones de este \u00f3rgano, situado debajo del cerebro, provocan un s\u00edndrome complejo, llamado ataxia, caracterizado por la falta de coordinaci\u00f3n de los movimientos del cuerpo.<\/p>\n
El estudio publicado en PLoS Genetics identifica un gen que causa ataxia en unos ratones llamados por los autores, en castellano, tambaleantes, debido a sus problemas de movimiento. El gen codifica una prote\u00edna gigante formada por cerca de 5.000 amino\u00e1cidos llamada HERC1 que est\u00e1 involucrada en procesos de control de las prote\u00ednas y en la regulaci\u00f3n del crecimiento y la divisi\u00f3n de las c\u00e9lulas.<\/p>\n
Una mutaci\u00f3n recesiva de este gen que produce s\u00f3lo el cambio de un amino\u00e1cido (glicina483glut\u00e1mico) en la prote\u00edna HERC1 causa una neurodegeneraci\u00f3n progresiva de las neuronas del cerebelo (denominadas c\u00e9lulas de Purkinje), a partir del segundo mes de vida de los ratones afectados. Adem\u00e1s de sufrir ataxia, estos animales son m\u00e1s peque\u00f1os, tienen problemas de fertilidad y viven menos tiempo. Todos estos efectos se han podido revertir con la introducci\u00f3n de una copia del gen normal en los ratones tambaleantes.<\/p>\n
El trabajo demuestra un papel inesperado y crucial de la prote\u00edna HERC1 en la fisiolog\u00eda de las c\u00e9lulas de Purkinje y se\u00f1ala esta prote\u00edna como un factor a tener en cuenta en des\u00f3rdenes neurodegenerativos.<\/p>\n
Adem\u00e1s del IDIBELL y la Universidad de Barcelona, en el trabajo han participado grupos de investigaci\u00f3n del Instituto Pasteur de Par\u00eds, de la Universidad de Kyoto de Jap\u00f3n, y de la Universidad Miguel Hern\u00e1ndez-CSIC, de Alicante.<\/p>\n
<\/b><\/p>\n","protected":false},"excerpt":{"rendered":"
El cerebelo es el centro responsable de la coordinaci\u00f3n motora en los vertebrados. Las alteraciones de este \u00f3rgano, situado debajo del cerebro, provocan un s\u00edndrome complejo, llamado ataxia, caracterizado por la falta de coordinaci\u00f3n de los movimientos del cuerpo. El estudio publicado en PLoS Genetics identifica un gen que causa ataxia en unos ratones llamados […]<\/p>\n","protected":false},"author":6,"featured_media":18703,"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":[186,294,273],"tags":[275],"class_list":["post-11504","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-area-medicina-traslacional","category-programa-de-diabetes-y-metabolismo","category-senalizacion-celular-y-biologia-del-hueso","tag-medicina-traslacional"],"publishpress_future_action":{"enabled":false,"date":"2024-12-25 18:56:10","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\/11504","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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/comments?post=11504"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/11504\/revisions"}],"predecessor-version":[{"id":18704,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/11504\/revisions\/18704"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/18703"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=11504"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=11504"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=11504"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}