{"id":11373,"date":"2025-11-05T15:17:34","date_gmt":"2025-11-05T14:17:34","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/les-organoides-revelent-que-le-syndrome-de-rett-commence-dans-le-cil-primaire-dun-embryon\/"},"modified":"2025-11-05T15:17:48","modified_gmt":"2025-11-05T14:17:48","slug":"les-organoides-revelent-que-le-syndrome-de-rett-commence-dans-le-cil-primaire-dun-embryon","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/les-organoides-revelent-que-le-syndrome-de-rett-commence-dans-le-cil-primaire-dun-embryon\/","title":{"rendered":"Les organo\u00efdes r\u00e9v\u00e8lent que le syndrome de Rett commence dans le cil primaire d&rsquo;un embryon"},"content":{"rendered":"<div>\n<div class=\"article-gallery lightGallery\">\n<div data-thumb=\"https:\/\/scx1.b-cdn.net\/csz\/news\/tmb\/2025\/the-primary-cilium-a-b.jpg\" data-src=\"https:\/\/scx2.b-cdn.net\/gfx\/news\/hires\/2025\/the-primary-cilium-a-b.jpg\" data-sub-html=\"Margaux Brin, Anthony Flamier and Marion Guillon. Credit: V\u00e9ronique Lavoie, CHU Sainte-Justine\">\n<figure class=\"article-img\">\n<\/figure><\/div>\n<\/div>\n<p>Le syndrome de Rett est une maladie neurod\u00e9g\u00e9n\u00e9rative rare qui touche presque exclusivement les filles. Elle est g\u00e9n\u00e9ralement diagnostiqu\u00e9e chez les b\u00e9b\u00e9s \u00e2g\u00e9s de six \u00e0 18 mois, lorsque les premiers sympt\u00f4mes commencent \u00e0 appara\u00eetre.<\/p>\n<p>Aujourd&rsquo;hui, une nouvelle \u00e9tude dirig\u00e9e par Anthony Flamier, professeur de m\u00e9decine \u00e0 l&rsquo;Universit\u00e9 de Montr\u00e9al, sugg\u00e8re que la mutation g\u00e9n\u00e9tique responsable de 95 % des cas classiques du syndrome de Rett peut \u00eatre d\u00e9tect\u00e9e d\u00e8s le stade embryonnaire, avant m\u00eame que le cerveau du b\u00e9b\u00e9 ne soit compl\u00e8tement form\u00e9.<\/p>\n<p>La recherche est publi\u00e9e sur le <i>bioRxiv<\/i> serveur de pr\u00e9impression.<\/p>\n<p>\u00c0 l\u2019aide de \u00ab mini-cerveaux \u00bb ou organo\u00efdes c\u00e9r\u00e9braux cultiv\u00e9s en laboratoire, Flamier et son \u00e9quipe de recherche du Centre de recherche Azrieli du CHU Sainte-Justine, affili\u00e9 \u00e0 l\u2019UdeM, ont observ\u00e9 la progression de la maladie d\u00e8s ses premiers instants. Cette approche a permis aux chercheurs de tester des mol\u00e9cules susceptibles d\u2019inverser les dommages neurod\u00e9veloppementaux caus\u00e9s par cette maladie rare, et les r\u00e9sultats pr\u00e9liminaires sont tr\u00e8s prometteurs.<\/p>\n<p>\u00c0 partir de petites biopsies cutan\u00e9es de huit patients, Flamier a extrait des cellules fibroblastiques pour les reprogrammer en cellules souches pluripotentes induites. Ceux-ci ont ensuite \u00e9t\u00e9 d\u00e9velopp\u00e9s en groupes de neurones appel\u00e9s plaques corticales, qui imitent la structure du cerveau humain.<\/p>\n<p>\u00ab\u00a0C&rsquo;est ce qui se rapproche le plus de la reproduction du cerveau humain en laboratoire\u00a0\u00bb, a d\u00e9clar\u00e9 Flamier.<\/p>\n<p>Les plaques corticales ont ensuite \u00e9t\u00e9 plac\u00e9es dans un appareil \u00e9quip\u00e9 d&rsquo;\u00e9lectrodes, appel\u00e9 Maestro Pro, qui enregistre l&rsquo;activit\u00e9 \u00e9lectrique des neurones.<\/p>\n<p>\u00ab\u00a0Les signaux \u00e9lectriques des neurones des patients Rett sont tr\u00e8s distinctifs\u00a0: ils produisent un motif irr\u00e9gulier au lieu d&rsquo;ondes lisses\u00a0\u00bb, a d\u00e9clar\u00e9 Flamier. \u00ab\u00a0Nous avons montr\u00e9 que cela est li\u00e9 \u00e0 un d\u00e9faut du cil primaire provoqu\u00e9 par la mutation g\u00e9n\u00e9tique.\u00a0\u00bb<\/p>\n<h2>Une \u00ab antenne \u00bb longtemps n\u00e9glig\u00e9e<\/h2>\n<p>Ces derni\u00e8res ann\u00e9es, Flamier a identifi\u00e9 le g\u00e8ne dont la mutation provoque directement de nombreux sympt\u00f4mes du syndrome de Rett. Cette mutation affecte le cil primaire, un minuscule organite qui a longtemps \u00e9t\u00e9 consid\u00e9r\u00e9 comme inutile.<\/p>\n<p>\u00ab\u00a0Le cil primaire agit comme une antenne miniature sur chaque neurone, captant les signaux externes\u00a0\u00bb, a expliqu\u00e9 Flamier. \u00ab\u00a0M\u00eame une l\u00e9g\u00e8re mutation peut entra\u00eener des sympt\u00f4mes graves.\u00a0\u00bb<\/p>\n<p>La bonne nouvelle ? Certaines mol\u00e9cules d\u00e9j\u00e0 approuv\u00e9es par la Food and Drug Administration des \u00c9tats-Unis et utilis\u00e9es en toute s\u00e9curit\u00e9 avec des patients pour traiter d&rsquo;autres probl\u00e8mes m\u00e9dicaux ont montr\u00e9 leur potentiel pour stabiliser le cil primaire.<\/p>\n<p>En collaboration avec le doctorat. Margaux Brin et Marion Guillon, l&rsquo;\u00e9quipe de Flamier teste 70 de ces mol\u00e9cules sur les mini-cerveaux pour mettre en \u00e9vidence leur effet sur l&rsquo;activit\u00e9 \u00e9lectrique des neurones. Les premiers r\u00e9sultats sont encourageants : d\u00e9j\u00e0 sept d\u2019entre eux ont r\u00e9ussi \u00e0 restaurer la structure du cil et \u00e0 normaliser la signalisation neuronale.<\/p>\n<p>\u00ab\u00a0La prochaine \u00e9tape consiste \u00e0 tester ces mol\u00e9cules \u00e0 plus grande \u00e9chelle gr\u00e2ce \u00e0 des collaborations internationales\u00a0\u00bb, a d\u00e9clar\u00e9 Flamier. \u00ab\u00a0Notre objectif est de d\u00e9terminer s&rsquo;ils peuvent r\u00e9duire les sympt\u00f4mes chez tous les patients ou seulement dans des sous-groupes sp\u00e9cifiques.\u00a0\u00bb<\/p>\n<p>Dans les prochains mois, le laboratoire de Flamier recevra \u00e9galement, d&rsquo;une biobanque am\u00e9ricaine, des \u00e9chantillons de cerveaux humains provenant d&rsquo;individus d\u00e9c\u00e9d\u00e9s du syndrome de Rett. L\u2019objectif est de d\u00e9terminer si l\u2019anomalie primaire du cil est r\u00e9pandue dans tout le cerveau ou sp\u00e9cifique \u00e0 certains types de neurones.<\/p>\n<p>                                        <!-- print only --><\/p><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Le syndrome de Rett est une maladie neurod\u00e9g\u00e9n\u00e9rative rare qui touche presque exclusivement les filles.<\/p>\n","protected":false},"author":1,"featured_media":11374,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[7536,2581,44,528,7537,49,5915,4992,4171,149,283],"class_list":["post-11373","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-cil","tag-commence","tag-dans","tag-dun","tag-embryon","tag-les","tag-organoides","tag-primaire","tag-rett","tag-revelent","tag-syndrome","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.4 - 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