{"id":1545,"date":"2024-10-23T18:55:56","date_gmt":"2024-10-23T16:55:56","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/les-chercheurs-identifient-un-traitement-possible-pour-le-syndrome-rare-ctnnb1\/"},"modified":"2024-10-23T18:55:58","modified_gmt":"2024-10-23T16:55:58","slug":"les-chercheurs-identifient-un-traitement-possible-pour-le-syndrome-rare-ctnnb1","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/les-chercheurs-identifient-un-traitement-possible-pour-le-syndrome-rare-ctnnb1\/","title":{"rendered":"Les chercheurs identifient un traitement possible pour le syndrome rare CTNNB1"},"content":{"rendered":"
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Des chercheurs de la Facult\u00e9 de m\u00e9decine de l’Universit\u00e9 Tufts et de la Graduate School of Biomedical Sciences (GSBS) ont identifi\u00e9 une petite mol\u00e9cule qui, dans des mod\u00e8les de cellules murines et humaines, corrige la cause mol\u00e9culaire sous-jacente d’un trouble g\u00e9n\u00e9tique rare du d\u00e9veloppement li\u00e9 \u00e0 des d\u00e9ficiences motrices et intellectuelles et \u00e0 certains types de troubles du spectre autistique.<\/p>\n

Leurs recherches les plus r\u00e9centes, publi\u00e9es dans EMBO M\u00e9decine Mol\u00e9culaire<\/i>fournit la premi\u00e8re preuve qu’un traitement m\u00e9dicamenteux efficace peut \u00eatre d\u00e9velopp\u00e9 pour ce trouble, appel\u00e9 syndrome CTNNB1, att\u00e9nuant et inversant potentiellement les probl\u00e8mes cognitifs et moteurs qu’il provoque, qui peuvent n\u00e9cessiter une assistance et des soins \u00e0 vie.<\/p>\n

Identifi\u00e9 pour la premi\u00e8re fois en 2012, le syndrome CTNNB1 touche environ 1 personne sur 50 000 dans le monde. Elle n\u2019est pas h\u00e9rit\u00e9e des parents, mais est provoqu\u00e9e in utero ou apr\u00e8s la naissance par une mutation sporadique d\u2019un seul g\u00e8ne. \u00c0 la naissance, les enfants semblent normaux, mais avec le temps, ils n\u2019atteignent pas les objectifs cognitifs et physiques attendus. Leur t\u00eate cesse de grandir et des retards de langage, des troubles d’apprentissage et des probl\u00e8mes de vision, d’\u00e9quilibre, de position assise, de rampement et de marche surviennent. Certains sont \u00e9galement autistes.<\/p>\n

Depuis de nombreuses ann\u00e9es, Michele H. Jacob, professeur de neurosciences \u00e0 l’\u00c9cole de m\u00e9decine et au GSBS, et ses coll\u00e8gues \u00e9tudient le g\u00e8ne CTNNB1, qui code pour la production de prot\u00e9ine b\u00eata-cat\u00e9nine, essentielle au d\u00e9veloppement et au bon fonctionnement des cellules.<\/p>\n

\u00ab\u00a0Des niveaux aberrants de b\u00eata-cat\u00e9nine ont \u00e9t\u00e9 associ\u00e9s \u00e0 un risque \u00e9lev\u00e9 de d\u00e9ficience intellectuelle, de troubles du spectre autistique et d’autres pathologies\u00a0\u00bb, explique Jacob.<\/p>\n

Dans les recherches les plus r\u00e9centes, les scientifiques ont d\u00e9velopp\u00e9 un mod\u00e8le murin du syndrome CTNNB1 qui pr\u00e9sente les principales caract\u00e9ristiques du syndrome CTNNB1 chez les patients et ont identifi\u00e9 un traitement correctif. Ils montrent qu\u2019une petite mol\u00e9cule inhibitrice d\u2019une enzyme endog\u00e8ne qui r\u00e9gule n\u00e9gativement la b\u00eata-cat\u00e9nine est efficace pour ramener les niveaux \u00e0 la normale, mais pas trop. Les jeunes souris adultes trait\u00e9es avec l\u2019inhibiteur ont montr\u00e9 une force musculaire consid\u00e9rablement am\u00e9lior\u00e9e et leurs capacit\u00e9s cognitives sont revenues aux niveaux des souris en bonne sant\u00e9.<\/p>\n

\u00ab\u00a0L’observation de ces r\u00e9sultats chez de jeunes souris adultes symptomatiques sugg\u00e8re que cette petite mol\u00e9cule pourrait offrir un espoir important pour inverser la maladie chez les enfants atteints de cette maladie\u00a0\u00bb, explique Jacob, qui travaille r\u00e9guli\u00e8rement avec le groupe de d\u00e9fense des patients \u00e0 but non lucratif pour cette maladie. , CTNNB1 Connect and Cure, pour en savoir plus sur la maladie.<\/p>\n

\u00ab\u00a0Nous avons test\u00e9 la petite mol\u00e9cule dans des mod\u00e8les de cellules humaines de la maladie, et r\u00e9cemment dans des cellules d\u00e9riv\u00e9es de patients, et elle agit pour augmenter les niveaux de b\u00eata-cat\u00e9nine\u00a0\u00bb, explique Jacob. Tufts et le Broad Institute ont d\u00e9pos\u00e9 conjointement un brevet li\u00e9 \u00e0 cette recherche, car la petite mol\u00e9cule efficace a \u00e9t\u00e9 d\u00e9velopp\u00e9e au Broad.<\/p>\n

Les scientifiques de Tufts collaborent d\u00e9sormais avec les National Institutes of Health, des scientifiques du Broad Institute et des coll\u00e8gues du Boston Children’s Hospital pour transformer la petite mol\u00e9cule en un m\u00e9dicament s\u00fbr et efficace et d\u00e9velopper un essai clinique pilote avec des patients.<\/p>\n

Jacob note que m\u00eame si 500 enfants ont \u00e9t\u00e9 d\u00e9finitivement confirm\u00e9s par des tests g\u00e9n\u00e9tiques comme \u00e9tant atteints du syndrome CTNNB1, la maladie pourrait \u00eatre plus r\u00e9pandue qu’on ne le pensait initialement. Les scientifiques et les cliniciens se penchent d\u00e9sormais sur des cas caract\u00e9ris\u00e9s comme une paralysie c\u00e9r\u00e9brale attribu\u00e9e \u00e0 un manque d’oxyg\u00e8ne dans le cerveau et d\u00e9couvrent qu’un sous-ensemble est en r\u00e9alit\u00e9 le syndrome CTNNB1.<\/p>\n

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Des chercheurs de la Facult\u00e9 de m\u00e9decine de l’Universit\u00e9 Tufts et de la Graduate School<\/p>\n","protected":false},"author":1,"featured_media":1546,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[288,1918,649,49,8,736,283,261],"class_list":["post-1545","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-chercheurs","tag-ctnnb1","tag-identifient","tag-les","tag-pour","tag-rare","tag-syndrome","tag-traitement","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"\nLes chercheurs identifient un traitement possible pour le syndrome rare CTNNB1 - 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\/les-chercheurs-identifient-un-traitement-possible-pour-le-syndrome-rare-ctnnb1\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Les chercheurs identifient un traitement possible pour le syndrome rare CTNNB1 - 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