{"id":2832,"date":"2024-12-14T01:56:43","date_gmt":"2024-12-14T00:56:43","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/un-mecanisme-genetique-cle-fournit-des-informations-sur-le-developpement-du-visage-et-les-problemes-congenitaux\/"},"modified":"2024-12-14T01:56:45","modified_gmt":"2024-12-14T00:56:45","slug":"un-mecanisme-genetique-cle-fournit-des-informations-sur-le-developpement-du-visage-et-les-problemes-congenitaux","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/un-mecanisme-genetique-cle-fournit-des-informations-sur-le-developpement-du-visage-et-les-problemes-congenitaux\/","title":{"rendered":"Un m\u00e9canisme g\u00e9n\u00e9tique cl\u00e9 fournit des informations sur le d\u00e9veloppement du visage et les probl\u00e8mes cong\u00e9nitaux"},"content":{"rendered":"
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Une \u00e9quipe internationale de chercheurs a identifi\u00e9 un m\u00e9canisme g\u00e9n\u00e9tique cl\u00e9 qui r\u00e9gule la formation et la migration des cellules de la cr\u00eate neurale cr\u00e2nienne, essentielles au d\u00e9veloppement des structures faciales.<\/p>\n

Cette d\u00e9couverte, publi\u00e9e dans Le Journal am\u00e9ricain de g\u00e9n\u00e9tique humaine<\/i>\u00e9largit notre compr\u00e9hension des r\u00f4les jou\u00e9s par des g\u00e8nes sp\u00e9cifiques dans une \u00e9tape critique du d\u00e9veloppement embryonnaire et ouvre la voie \u00e0 une compr\u00e9hension plus approfondie des causes g\u00e9n\u00e9tiques de certaines maladies cong\u00e9nitales.<\/p>\n

Cette \u00e9tude a r\u00e9v\u00e9l\u00e9 comment le g\u00e8ne ZIC2, en collaboration avec le complexe ARID1A-BAF, joue un r\u00f4le crucial dans un processus connu sous le nom de transition \u00e9pith\u00e9liale-m\u00e9senchymateuse (EMT). Ce processus permet aux cellules de changer de forme et de migrer vers leur destination au sein de l\u2019embryon pour former des organes et des tissus, notamment des structures faciales.<\/p>\n

L’\u00e9tude a \u00e9t\u00e9 co-dirig\u00e9e par Elo\u00edsa Herrera, responsable du laboratoire de g\u00e9n\u00e9ration et r\u00e9g\u00e9n\u00e9ration de circuits neuronaux bilat\u00e9raux \u00e0 l’Institut des neurosciences (IN), un centre commun du Conseil national espagnol de la recherche (CSIC) et de l’Universit\u00e9 Miguel Hern\u00e1ndez (UMH). d’Elche, et Marco Trizzino, dont le laboratoire de l’Imperial College de Londres est sp\u00e9cialis\u00e9 dans l’\u00e9tude des cellules souches humaines.<\/p>\n

Collaboration internationale<\/h2>\n

L’\u00e9quipe a men\u00e9 des exp\u00e9riences en utilisant des cellules souches d\u00e9riv\u00e9es de patients atteints du syndrome de Coffin-Siris (CSS), une maladie g\u00e9n\u00e9tique rare caus\u00e9e par une fonction g\u00e9n\u00e9tique insuffisante. Le CSS se caract\u00e9rise par des anomalies dans diverses parties du corps, notamment des anomalies des membres, une d\u00e9ficience intellectuelle et des malformations cranio-faciales.<\/p>\n

Ces cellules ont \u00e9t\u00e9 utilis\u00e9es pour \u00e9tudier l’impact des alt\u00e9rations g\u00e9n\u00e9tiques d’ARID1A sur les programmes g\u00e9n\u00e9tiques de l’EMT et la fonction du g\u00e8ne ZIC2. Les analyses ont utilis\u00e9 des techniques avanc\u00e9es telles que RNA-seq et ChIP-seq, qui ont permis l’identification des g\u00e8nes r\u00e9gul\u00e9s par cet axe mol\u00e9culaire.<\/p>\n

De plus, l\u2019\u00e9quipe a utilis\u00e9 des mod\u00e8les animaux, notamment des souris et des embryons de poulet, pour observer in vivo comment ZIC2 r\u00e9gule la migration des cellules de la cr\u00eate neurale et pour examiner les d\u00e9fauts associ\u00e9s \u00e0 la perte d\u2019ARID1A au cours du d\u00e9veloppement cranio-facial. \u00ab\u00a0C’est ainsi que nous avons d\u00e9couvert que ZIC2 est exprim\u00e9 dans les cellules pr\u00e9migratoires de la cr\u00eate neurale, juste avant qu’elles ne commencent leur migration\u00a0\u00bb, note Herrera.<\/p>\n

Les r\u00e9sultats de cette \u00e9tude r\u00e9v\u00e8lent qu’ARID1A r\u00e9gule un programme g\u00e9n\u00e9tique essentiel pour l’EMT, ZIC2 \u00e9tant identifi\u00e9 comme l’un des g\u00e8nes les plus critiques dans ce processus. Si ARID1A ne fonctionne pas correctement, ZIC2 ne peut pas occuper les places g\u00e9nomiques requises pour activer les g\u00e8nes li\u00e9s \u00e0 l’EMT, perturbant la migration de la cr\u00eate neurale, d\u00e9clenchant des trajectoires cellulaires aberrantes et conduisant \u00e0 des anomalies cranio-faciales.<\/p>\n

Cette recherche met en lumi\u00e8re les m\u00e9canismes g\u00e9n\u00e9tiques \u00e0 la base du d\u00e9veloppement cranio-facial et fournit des informations pr\u00e9cieuses pour le d\u00e9veloppement de th\u00e9rapies cibl\u00e9es. \u00ab\u00a0Comprendre comment ZIC2 et ARID1A interagissent au cours du d\u00e9veloppement nous donne un outil cl\u00e9 pour explorer les traitements potentiels des maladies g\u00e9n\u00e9tiques cong\u00e9nitales\u00a0\u00bb, conclut Herrera.<\/p>\n

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Une \u00e9quipe internationale de chercheurs a identifi\u00e9 un m\u00e9canisme g\u00e9n\u00e9tique cl\u00e9 qui r\u00e9gule la formation<\/p>\n","protected":false},"author":1,"featured_media":2833,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[666,1208,16,653,2480,944,1587,49,1256,1248,112,3075],"class_list":["post-2832","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-cle","tag-congenitaux","tag-des","tag-developpement","tag-fournit","tag-genetique","tag-informations","tag-les","tag-mecanisme","tag-problemes","tag-sur","tag-visage","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"\nUn m\u00e9canisme g\u00e9n\u00e9tique cl\u00e9 fournit des informations sur le d\u00e9veloppement du visage et les probl\u00e8mes cong\u00e9nitaux - RVH-Synergie.org<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/rvh-synergie.org\/actualites\/un-mecanisme-genetique-cle-fournit-des-informations-sur-le-developpement-du-visage-et-les-problemes-congenitaux\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Un m\u00e9canisme g\u00e9n\u00e9tique cl\u00e9 fournit des informations sur le d\u00e9veloppement du visage et les probl\u00e8mes cong\u00e9nitaux - 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