El cerebel \u00e9s el centre responsable de la coordinaci\u00f3 motora en els vertebrats. Les alteracions d\u2019aquest \u00f2rgan, situat a sota del cervell, provoquen una s\u00edndrome complexa, anomenada at\u00e0xia, caracteritzada per la manca de coordinaci\u00f3 dels moviments del cos.<\/p>\n
L\u2019estudi publicat a PLoS Genetics identifica un gen que causa at\u00e0xia en uns ratolins anomenats pels autors, en castell\u00e0, tambaleantes (trontollosos), degut als seus problemes de moviment. El gen codifica una prote\u00efna gegant formada per prop de 5.000 amino\u00e0cids anomenada HERC1 que est\u00e0 involucrada en processos de control de les prote\u00efnes i en la regulaci\u00f3 del creixement i la divisi\u00f3 de les c\u00e8l\u00b7lules.<\/p>\n
Una mutaci\u00f3 recessiva d\u2019aquest gen que produeix nom\u00e9s el canvi d\u2019un amino\u00e0cid (glicina483glut\u00e0mic) en la prote\u00efna HERC1 causa una neurodegeneraci\u00f3 progressiva de les neurones del cerebel (anomenades c\u00e8l\u00b7lules de Purkinje), a partir del segon mes de vida dels ratolins afectats. A m\u00e9s de patir at\u00e0xia, aquests animals s\u00f3n m\u00e9s petits, tenen problemes de fertilitat i viuen menys temps. Tots aquests efectes s\u2019han pogut revertir amb la introducci\u00f3 d\u2019una c\u00f2pia del gen normal en els ratolins tambaleantes.<\/p>\n
El treball demostra un paper inesperat i crucial de la prote\u00efna HERC1 en la fisiologia de les c\u00e8l\u00b7lules de Purkinje i senyala aquesta prote\u00efna com un factor a tenir en compte en desordres neurodegeneratius.<\/p>\n
A m\u00e9s de l\u2019IDIBELL i la Universitat de Barcelona, en el treball han participat grups de recerca de l\u2019Institut Pasteur de Par\u00eds, de la Universitat de Kyoto de Jap\u00f3, i de la Universidad Miguel Hern\u00e1ndez-CSIC, d\u2019Alacant.<\/p>\n","protected":false},"excerpt":{"rendered":"
El cerebel \u00e9s el centre responsable de la coordinaci\u00f3 motora en els vertebrats. Les alteracions d\u2019aquest \u00f2rgan, situat a sota del cervell, provoquen una s\u00edndrome complexa, anomenada at\u00e0xia, caracteritzada per la manca de coordinaci\u00f3 dels moviments del cos. L\u2019estudi publicat a PLoS Genetics identifica un gen que causa at\u00e0xia en uns ratolins anomenats pels autors, […]<\/p>\n","protected":false},"author":6,"featured_media":19300,"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":[1,334,461,338],"tags":[],"class_list":["post-9745","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar","category-medicina-translacional","category-p-de-diabetis-i-metabolisme","category-senyalitzacio-cellular-i-biologia-de-l-os"],"publishpress_future_action":{"enabled":false,"date":"2024-12-25 12:55:11","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9745","targetHints":{"allow":["GET"]}}],"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=9745"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9745\/revisions"}],"predecessor-version":[{"id":19302,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9745\/revisions\/19302"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/19300"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=9745"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=9745"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=9745"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}