{"id":10890,"date":"2018-08-22T12:13:25","date_gmt":"2018-08-22T12:13:25","guid":{"rendered":"http:\/\/drupal.test\/projects\/traitement-des-mutations-non-sens-par-un-nouvel-aminoglycoside-inducteur-de-translecture\/"},"modified":"2022-07-26T13:04:13","modified_gmt":"2022-07-26T17:04:13","slug":"traitement-des-mutations-non-sens-par-un-nouvel-aminoglycoside-inducteur-de-translecture","status":"publish","type":"project","link":"https:\/\/genomecanada.ca\/fr\/project\/traitement-des-mutations-non-sens-par-un-nouvel-aminoglycoside-inducteur-de-translecture\/","title":{"rendered":"Traitement des mutations non-sens par un nouvel aminoglycoside inducteur de translecture"},"content":{"rendered":"<p>La cystinose n\u00e9phropathique est une maladie rare qui touche les nourrissons ayant h\u00e9rit\u00e9 de deux mutations du g\u00e8ne <em>CTNS<\/em>, lesquelles entra\u00eenent une accumulation de cystine dans tous les tissus. \u00c0 la naissance, les b\u00e9b\u00e9s semblent normaux, mais leur croissance ralentit d\u00e8s l\u2019\u00e2ge de 4 \u00e0 6\u00a0mois et d\u2019importants \u00e9l\u00e9ments nutritifs sont \u00e9limin\u00e9s dans leur urine. S\u2019ils ne sont pas trait\u00e9s, ces enfants doivent \u00eatre soumis \u00e0 la dialyse et, \u00e0 10\u00a0ans, ils auront besoin d\u2019une greffe. D\u2019autres organes se d\u00e9t\u00e9riorent pendant l\u2019adolescence. Plus tard, lorsqu\u2019ils sont devenus de jeunes adultes, la maladie touche leurs muscles, leur cerveau et leur c\u0153ur, et la survie au-del\u00e0 de 30\u00a0ans est rare. L\u2019unique traitement actuellement offert, la cyst\u00e9amine, peut retarder (mais non pr\u00e9venir) l\u2019insuffisance r\u00e9nale.<\/p>\n<p>Au Qu\u00e9bec, la cystinose est plus fr\u00e9quente qu\u2019ailleurs parce qu\u2019une mutation \u00ab\u2009non-sens\u2009\u00bb particuli\u00e8re du g\u00e8ne <em>CTNS<\/em> (W138X) a \u00e9t\u00e9 introduite dans la population francophone par un immigrant irlandais. Les mutations non-sens ordonnent \u00e0 la cellule de cesser la production de la prot\u00e9ine cod\u00e9e par le g\u00e8ne <em>CTNS<\/em> avant que sa synth\u00e8se ne soit termin\u00e9e. Certains antibiotiques (aminoglycosides) peuvent berner la cellule et l\u2019amener \u00e0 ignorer une mutation non-sens, mais ils sont g\u00e9n\u00e9ralement trop toxiques pour qu\u2019on les utilise comme traitement \u00e0 long terme. Au cours des derni\u00e8res ann\u00e9es, l\u2019entreprise Eloxx Pharmaceuticals a mis au point un nouvel aminoglycoside (ELX-02) beaucoup moins toxique. Des \u00e9tudes r\u00e9alis\u00e9es \u00e0 l\u2019Universit\u00e9 McGill ont montr\u00e9 que le ELX-02 permet aux cellules des patients d\u2019ignorer la mutation\u00a0W138X et ont \u00e9tabli que celui-ci n\u2019a pas d\u2019effet toxique sur les cellules, chez les animaux et chez des humains ayant particip\u00e9 volontairement \u00e0 la recherche. En restaurant la production de la prot\u00e9ine normalement cod\u00e9e par le g\u00e8ne <em>CTNS<\/em>, le traitement prolong\u00e9 par le ELX-02 pourrait se r\u00e9v\u00e9ler curatif.<\/p>\n<p>Eloxx Pharmaceuticals s\u2019est associ\u00e9e au laboratoire du Dr\u00a0Paul\u00a0Goodyer pour proc\u00e9der \u00e0 un d\u00e9pistage des mutations non-sens du g\u00e8ne <em>CTNS<\/em> en Am\u00e9rique du Nord avant d\u2019entamer un essai clinique de phase\u00a0II. Si l\u2019essai est concluant, le ELX-02 pourrait g\u00e9n\u00e9rer une \u00e9conomie des co\u00fbts li\u00e9s \u00e0 la cystinose pouvant atteindre les 5,2\u00a0millions de dollars et ouvrir la voie au traitement d\u2019autres maladies g\u00e9n\u00e9tiques d\u00e9coulant de mutations non-sens.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La cystinose n\u00e9phropathique est une maladie rare qui touche les nourrissons ayant h\u00e9rit\u00e9 de deux mutations du g\u00e8ne CTNS, lesquelles entra\u00eenent une accumulation de cystine dans tous les tissus. \u00c0 la naissance, les b\u00e9b\u00e9s semblent normaux, mais leur croissance ralentit d\u00e8s l\u2019\u00e2ge de 4 \u00e0 6\u00a0mois et d\u2019importants \u00e9l\u00e9ments nutritifs sont \u00e9limin\u00e9s dans leur urine. [&hellip;]<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}}},"project-categories":[92],"genome-competitions":[210],"project-sector":[],"genome_centres":[104],"class_list":["post-10890","project","type-project","status-publish","hentry","project-categories-translation-fr","genome-competitions-programme-de-partenariats-pour-les-applications-de-la-genomique","genome_centres-genome-quebec-fr"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Traitement des mutations non-sens par un nouvel aminoglycoside inducteur de translecture - GenomeCanada<\/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:\/\/genomecanada.ca\/fr\/project\/traitement-des-mutations-non-sens-par-un-nouvel-aminoglycoside-inducteur-de-translecture\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Traitement des mutations non-sens par un nouvel aminoglycoside inducteur de translecture - GenomeCanada\" \/>\n<meta property=\"og:description\" content=\"La cystinose n\u00e9phropathique est une maladie rare qui touche les nourrissons ayant h\u00e9rit\u00e9 de deux mutations du g\u00e8ne CTNS, lesquelles entra\u00eenent une accumulation de cystine dans tous les tissus. \u00c0 la naissance, les b\u00e9b\u00e9s semblent normaux, mais leur croissance ralentit d\u00e8s l\u2019\u00e2ge de 4 \u00e0 6\u00a0mois et d\u2019importants \u00e9l\u00e9ments nutritifs sont \u00e9limin\u00e9s dans leur urine. 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