{"id":11280,"date":"2025-11-03T18:35:32","date_gmt":"2025-11-03T17:35:32","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/le-gene-cep76-met-en-lumiere-la-cause-de-troubles-rares-de-la-ciliopathie\/"},"modified":"2025-11-03T18:35:34","modified_gmt":"2025-11-03T17:35:34","slug":"le-gene-cep76-met-en-lumiere-la-cause-de-troubles-rares-de-la-ciliopathie","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/le-gene-cep76-met-en-lumiere-la-cause-de-troubles-rares-de-la-ciliopathie\/","title":{"rendered":"Le g\u00e8ne CEP76 met en lumi\u00e8re la cause de troubles rares de la ciliopathie"},"content":{"rendered":"
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Selon une \u00e9tude publi\u00e9e dans Avanc\u00e9es scientifiques<\/i>.<\/p>\n

Les ciliopathies, un groupe de troubles g\u00e9n\u00e9tiques, sont caus\u00e9es par des d\u00e9fauts dans la structure ou la fonction des cils, de minuscules organites ressemblant \u00e0 des cheveux que l’on trouve sur presque toutes les cellules du corps. Ces cils agissent comme des centres sensoriels et de signalisation, jouant un r\u00f4le essentiel dans le d\u00e9veloppement, le maintien des tissus et les processus physiologiques. Lorsqu\u2019ils fonctionnent mal, ils perturbent la signalisation et le transport cellulaires, entra\u00eenant des effets g\u00e9n\u00e9ralis\u00e9s sur plusieurs syst\u00e8mes organiques.<\/p>\n

\u00ab\u00a0Pendant des centaines d’ann\u00e9es, nous pensions que les cils ne faisaient rien d’important\u00a0\u00bb, a d\u00e9clar\u00e9 Erica Davis, Ph.D., professeur de p\u00e9diatrie et de biologie cellulaire et d\u00e9veloppementale, qui \u00e9tait l’auteur principal de l’\u00e9tude.<\/p>\n

\u00ab\u00a0Il s’av\u00e8re qu’ils sont essentiels au d\u00e9veloppement et \u00e0 l’hom\u00e9ostasie parce que c’est ainsi que les cellules communiquent entre elles au d\u00e9but du d\u00e9veloppement, pendant les processus de r\u00e9g\u00e9n\u00e9ration et qu’elles per\u00e7oivent leur environnement extracellulaire. Si les cils ne fonctionnent pas, beaucoup de choses peuvent mal tourner.\u00a0\u00bb<\/p>\n

Dans l’\u00e9tude, les enqu\u00eateurs ont d\u00e9couvert des variantes du CEP76 chez huit personnes non apparent\u00e9es qui pr\u00e9sentaient une gamme de sympt\u00f4mes, notamment des retards de d\u00e9veloppement neurologique, des probl\u00e8mes de vision et d’autres probl\u00e8mes multisyst\u00e9miques.<\/p>\n

En utilisant des cellules d\u00e9riv\u00e9es de patients et des mod\u00e8les de poisson z\u00e8bre, Davis et ses collaborateurs ont observ\u00e9 une formation d\u00e9fectueuse de cil, des cils raccourcis et une architecture perturb\u00e9e au niveau de la zone de transition, une passerelle essentielle pour le trafic mol\u00e9culaire entrant et sortant du cil. Ces d\u00e9fauts \u00e9taient li\u00e9s \u00e0 un transport alt\u00e9r\u00e9 des prot\u00e9ines le long du cil.<\/p>\n

Ensuite, en utilisant la prot\u00e9omique pour cartographier le r\u00e9seau d’interaction de CEP76, les chercheurs ont trouv\u00e9 des partenaires connus CCP110 et CEP97, ainsi que de nouveaux partenaires d’interaction ALMS1 (la cause g\u00e9n\u00e9tique du syndrome d’Alstr\u00f6m) et LUZP1, un nouveau g\u00e8ne candidat pour la ciliopathie.<\/p>\n

\u00ab\u00a0Le CEP76 n’\u00e9tait auparavant associ\u00e9 \u00e0 aucune condition humaine\u00a0\u00bb, a d\u00e9clar\u00e9 Kamal Khan, Ph.D., associ\u00e9 postdoctoral au laboratoire Davis et premier auteur de l’\u00e9tude.<\/p>\n

\u00ab\u00a0Nous avons d\u00e9montr\u00e9 dans les cellules de patients et dans le poisson z\u00e8bre que lorsque CEP76 est absent, la formation des cils est perturb\u00e9e et le transport au sein des cils est alt\u00e9r\u00e9.\u00a0\u00bb<\/p>\n

Une meilleure compr\u00e9hension scientifique des fondements g\u00e9n\u00e9tiques des ciliopathies offre de l’espoir aux familles touch\u00e9es par ces maladies rares et souvent d\u00e9bilitantes, a d\u00e9clar\u00e9 Davis.<\/p>\n

\u00ab\u00a0En comprenant les t\u00e2ches sp\u00e9cifiques de chaque prot\u00e9ine et en identifiant d’autres ayant des fonctions similaires, nous pouvons mieux interpr\u00e9ter les m\u00e9canismes de la maladie et pr\u00e9dire quels individus pourraient avoir des causes g\u00e9n\u00e9tiques associ\u00e9es\u00a0\u00bb, a d\u00e9clar\u00e9 Davis, qui est \u00e9galement Ann Marie et Francis Klocke, MD Research Scholar \u00e0 l’h\u00f4pital pour enfants Ann & Robert H. Lurie de Chicago.<\/p>\n

\u00ab\u00a0Nous pourrons alors commencer \u00e0 r\u00e9fl\u00e9chir au ciblage th\u00e9rapeutique de g\u00e8nes et de prot\u00e9ines similaires qui effectuent des t\u00e2ches similaires.\u00a0\u00bb<\/p>\n

S’appuyant sur ces r\u00e9sultats, Davis a d\u00e9clar\u00e9 qu’elle et son laboratoire pr\u00e9voyaient d’\u00e9tudier pourquoi les m\u00eames variantes g\u00e9n\u00e9tiques peuvent se manifester diff\u00e9remment chez chaque enfant et d’identifier des cibles potentielles de traitement.<\/p>\n

\u00ab\u00a0Ce qui m’a fascin\u00e9 dans les ciliopathies depuis deux d\u00e9cennies, c’est ce qui rend les personnes atteintes diff\u00e9rentes les unes des autres ? Pourquoi leurs maladies \u00e9voluent-elles diff\u00e9remment ? Pourquoi les parents pourraient-ils regarder leurs deux enfants atteints de la m\u00eame cause g\u00e9n\u00e9tique et constater qu’ils sont compl\u00e8tement diff\u00e9rents ? Nous pouvons aborder cela d’un point de vue g\u00e9n\u00e9tique en examinant d’autres variations du g\u00e9nome qui pourraient influencer ces diff\u00e9rences\u00a0\u00bb, a d\u00e9clar\u00e9 Davis.<\/p>\n

<\/p><\/div>\n","protected":false},"excerpt":{"rendered":"

Selon une \u00e9tude publi\u00e9e dans Avanc\u00e9es scientifiques. Les ciliopathies, un groupe de troubles g\u00e9n\u00e9tiques, sont<\/p>\n","protected":false},"author":1,"featured_media":11281,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[7473,7474,1617,831,815,1052,164],"class_list":["post-11280","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-cep76","tag-ciliopathie","tag-gene","tag-lumiere","tag-met","tag-rares","tag-troubles","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"\nLe g\u00e8ne CEP76 met en lumi\u00e8re la cause de troubles rares de la ciliopathie - 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\/le-gene-cep76-met-en-lumiere-la-cause-de-troubles-rares-de-la-ciliopathie\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Le g\u00e8ne CEP76 met en lumi\u00e8re la cause de troubles rares de la ciliopathie - RVH-Synergie.org\" \/>\n<meta property=\"og:description\" content=\"Selon une \u00e9tude publi\u00e9e dans Avanc\u00e9es scientifiques. 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