{"id":24418,"date":"2019-05-03T08:10:25","date_gmt":"2019-05-03T08:10:25","guid":{"rendered":"https:\/\/theazrielifoundationfr.kinsta.cloud\/?post_type=stories&p=24418"},"modified":"2023-01-26T20:57:00","modified_gmt":"2023-01-26T20:57:00","slug":"le-syndrome-de-lx-fragile","status":"publish","type":"stories","link":"https:\/\/azrielifoundation.org\/fr\/stories\/le-syndrome-de-lx-fragile\/","title":{"rendered":"Le syndrome de l\u2019X fragile"},"content":{"rendered":"\r\n

Le syndrome de l\u2019X fragile est un trouble g\u00e9n\u00e9tique caus\u00e9 par la mutation d\u2019un g\u00e8ne unique, provoquant un retard mental li\u00e9 au chromosome X fragile.<\/p>\r\n\r\n\r\n\r\n

Le g\u00e8ne FMR1 existe sous trois formes distinctes : normale, en pr\u00e9mutation et en mutation compl\u00e8te.<\/p>\r\n\r\n\r\n\r\n

Pour ceux chez qui la mutation est compl\u00e8te, les r\u00e9sultats peuvent comprendre une vaste gamme de probl\u00e8mes physiques, comportementaux et li\u00e9s au d\u00e9veloppement. Il s\u2019agit de la cause la plus fr\u00e9quente de d\u00e9ficiences d\u00e9veloppementales h\u00e9r\u00e9ditaires, et la cause monog\u00e9nique la plus commune de l\u2019autisme.\u00a0<\/p>\r\n\r\n\r\n\r\n

Ce trouble n\u2019a aucune incidence sur l\u2019esp\u00e9rance de vie normale, mais il exige des soins et du soutien la vie durant.<\/p>\r\n\r\n\r\n\r\n

La Fondation Azrieli appuie la recherche sur le g\u00e8ne FMR1, tant sous forme de pr\u00e9mutation que de mutation compl\u00e8te.<\/p>\r\n\r\n\r\n\r\n

\r\n
\"\"<\/figure>\r\n<\/div>\r\n\r\n\r\n\r\n

\u00ab\u00a0La m\u00e9tformine est l\u2019aspirine du 21e<\/sup>\u00a0si\u00e8cle. \u00bb<\/h2>\r\n\r\n\r\n\r\n
–\u00a0Dre<\/sup> Randi Hagerman<\/h6>\r\n\r\n\r\n\r\n

 <\/p>\r\n\r\n\r\n\r\n

Essai clinique sur l\u2019efficacit\u00e9 de la m\u00e9tformine aupr\u00e8s d\u2019individus atteints du syndrome de l\u2019X fragile<\/h3>\r\n\r\n\r\n\r\n

Parmi les sympt\u00f4mes du syndrome de l\u2019X fragile, on compte les d\u00e9ficits du langage, les troubles du comportement, l\u2019ob\u00e9sit\u00e9 et l\u2019app\u00e9tit excessif.<\/p>\r\n\r\n\r\n\r\n

La m\u00e9tformine est un m\u00e9dicament pour le diab\u00e8te de type 2 qui, comme l\u2019explique la Dre<\/sup> Randi Hagerman du MIND Institute de Californie, est \u00ab\u00a0l\u2019aspirine du 21e<\/sup>\u00a0si\u00e8cle\u00a0\u00bb.\u00a0<\/p>\r\n\r\n\r\n\r\n

\r\n
https:\/\/youtu.be\/munVHro-sTc<\/div>\r\n<\/figure>\r\n\r\n\r\n\r\n

L\u2019essai clinique sur l\u2019efficacit\u00e9 de la m\u00e9tformine est une collaboration entre le\u00a0UC Davis MIND Institute<\/a>, l\u2019University of Alberta Women and Children\u2019s Health Research Institute<\/a>\u00a0\u00e0 Edmonton, et le Centre de recherche du CHU Sainte-Justine<\/a>.<\/p>\r\n\r\n\r\n\r\n

Un r\u00e9seau de chercheurs travaillant au sein d\u2019une infrastructure collaborative d\u2019essais cliniques, aidera ces universit\u00e9s \u00e0 mener conjointement cet essai visant \u00e0 \u00e9valuer un traitement nouveau et potentiellement prometteur pour le syndrome de l\u2019X fragile.<\/p>\r\n\r\n\r\n\r\n

R\u00e9union d\u2019\u00e9tape 2019 \u00e0 Banff pour un suivi sur l\u2019essai clinique de la m\u00e9taformine.<\/h3>\r\n\r\n\r\n\r\n
\"\"<\/figure>\r\n\r\n\r\n\r\n
\r\n
\"\"<\/figure>\r\n<\/div>\r\n\r\n\r\n\r\n

Clinique de pr\u00e9mutation de l\u2019X fragile X au Sheba Medical Center<\/h3>\r\n\r\n\r\n\r\n

Pour ceux qui ont une s\u00e9quence g\u00e9n\u00e9tique r\u00e9p\u00e9t\u00e9e entra\u00eenant une pr\u00e9mutation, les r\u00e9sultats sont moins \u00e9vidents, mais peuvent s\u2019av\u00e9rer tout aussi d\u00e9vastateurs.<\/p>\r\n\r\n\r\n\r\n

Un porteur de mutation g\u00e9n\u00e9tique est un individu qui a h\u00e9rit\u00e9 d\u2019un g\u00e8ne dont la forme a \u00e9t\u00e9 alt\u00e9r\u00e9e, mais qui ne pr\u00e9sente aucun effet li\u00e9 \u00e0 cette mutation.<\/p>\r\n\r\n\r\n\r\n

Toutefois, dans le cas de l\u2019X fragile, cette d\u00e9finition ne s\u2019applique pas tout \u00e0 fait, puisque les porteurs de pr\u00e9mutation pr\u00e9sentent le risque de d\u00e9velopper des troubles associ\u00e9s \u00e0 l\u2019X fragile, y compris le syndrome des tremblements ataxiques associ\u00e9 \u00e0 l\u2019X fragile et l\u2019insuffisance ovarienne primaire associ\u00e9e \u00e0 l\u2019X fragile.<\/p>\r\n\r\n\r\n\r\n

Dans le cas de femmes porteuses de cette pr\u00e9mutation, leurs enfants ont 50\u00a0% de chance d\u2019\u00eatre porteurs de la mutation de l\u2019X fragile.<\/p>\r\n\r\n\r\n\r\n

\u00c0 travers le monde, environ une femme sur 200 et un homme sur 450 sont porteurs du g\u00e8ne en pr\u00e9mutation.<\/p>\r\n\r\n\r\n\r\n

Le Sheba Medical Center effectue des recherches et fait avancer les soins pour les personnes atteintes de la pr\u00e9mutation de l\u2019X fragile.<\/p>\r\n\r\n\r\n\r\n

\r\n
\"\"<\/figure>\r\n<\/div>\r\n\r\n\r\n\r\n

Prof. Irit Sagi\u00a0: \u00c9tude sur le MMP-9<\/h3>\r\n\r\n\r\n\r\n

Au Weizmann Institute d\u2019Isra\u00ebl, la professeure Irit Sagi explore les liens possibles entre les niveaux \u00e9lev\u00e9s de MMP-9 dans le cerveau et les traits comportementaux et cognitifs chez les personnes atteintes de l\u2019X fragile.<\/p>\r\n\r\n\r\n\r\n

\r\n
https:\/\/youtu.be\/cfAbfgZgiEk<\/div>\r\n<\/figure>\r\n","protected":false},"excerpt":{"rendered":"

Le syndrome de l\u2019X fragile est un trouble g\u00e9n\u00e9tique caus\u00e9 par la mutation d\u2019un g\u00e8ne unique, provoquant un retard mental li\u00e9 au chromosome X fragile. Le g\u00e8ne FMR1 existe sous trois formes distinctes : normale, en pr\u00e9mutation et en mutation compl\u00e8te. Pour ceux chez qui la mutation est compl\u00e8te, les r\u00e9sultats peuvent comprendre une vaste […]<\/p>\n","protected":false},"featured_media":25504,"comment_status":"open","ping_status":"closed","template":"","tags":[],"stories_entries":[],"class_list":["post-24418","stories","type-stories","status-publish","has-post-thumbnail","hentry"],"acf":[],"yoast_head":"\nLe syndrome de l\u2019X fragile - The Azrieli Foundation<\/title>\n<meta name=\"description\" content=\"Le syndrome de l\u2019X fragile est un trouble g\u00e9n\u00e9tique caus\u00e9 par la mutation d\u2019un g\u00e8ne unique, provoquant un retard mental li\u00e9 au chromosome X fragile.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/azrielifoundation.org\/fr\/stories\/le-syndrome-de-lx-fragile\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Le syndrome de l\u2019X fragile - 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