{"id":4656,"date":"2025-02-27T17:57:20","date_gmt":"2025-02-27T16:57:20","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/les-scientifiques-decouvrent-le-gene-lie-a-un-placement-anormal-dorganes-et-a-des-malformations-cardiaques-congenitales\/"},"modified":"2025-02-27T17:57:26","modified_gmt":"2025-02-27T16:57:26","slug":"les-scientifiques-decouvrent-le-gene-lie-a-un-placement-anormal-dorganes-et-a-des-malformations-cardiaques-congenitales","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/les-scientifiques-decouvrent-le-gene-lie-a-un-placement-anormal-dorganes-et-a-des-malformations-cardiaques-congenitales\/","title":{"rendered":"Les scientifiques d\u00e9couvrent le g\u00e8ne li\u00e9 \u00e0 un placement anormal d’organes et \u00e0 des malformations cardiaques cong\u00e9nitales"},"content":{"rendered":"
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De nouvelles recherches des scientifiques de KAUST ont identifi\u00e9 que le g\u00e8ne \u00ab\u00a0Ciroz\u00a0\u00bb est responsable des malformations cardiaques p\u00e9diatriques et du mauvais placement des organes internes. Les r\u00e9sultats viennent de travailler avec plusieurs instituts dans le monde, dont deux universit\u00e9s et deux h\u00f4pitaux du Royaume. Il fournit de nouvelles informations sur les maladies h\u00e9r\u00e9ditaires, qui ont un taux plus \u00e9lev\u00e9 en Arabie saoudite que dans le monde.<\/p>\n

Rejoindre une \u00e9quipe de scientifiques et de m\u00e9decins des principaux h\u00f4pitaux de recherche et institutions m\u00e9dicales de la r\u00e9gion, notamment l’Arabie saoudite, le professeur de KAUST Bruno Reversade explique les implications de la d\u00e9mographie unique du Moyen-Orient dans une nouvelle perspective \u00e9crite dans G\u00e9n\u00e9tique de la nature<\/i>. La perspective fait r\u00e9f\u00e9rence \u00e0 l’identification de plusieurs g\u00e8nes li\u00e9s \u00e0 des maladies h\u00e9r\u00e9ditaires qui ont \u00e9merg\u00e9 de l’\u00e9tude des populations dans le Grand Moyen-Orient.<\/p>\n

Dans un document de recherche compl\u00e9mentaire, \u00e9crivant avec les m\u00eames scientifiques d’Arabie saoudite, il a dirig\u00e9 une \u00e9quipe internationale de scientifiques de 13 pays qui signalent The American Journal of Human Genetics<\/i> que les mutations du g\u00e8ne Ciroz provoquent de graves malformations cardiaques \u00e0 la naissance. Le g\u00e8ne \u00e9tait connu des scientifiques auparavant mais comme C1ORF127, et sa fonction dans le corps humain n’a jamais \u00e9t\u00e9 comprise. Le nouveau nom est une abr\u00e9viation qui refl\u00e8te sa fonction.<\/p>\n

\u00ab\u00a0De nombreuses maladies sont sans diagnostic, et pour la plupart des conditions, les traitements disponibles sont de g\u00e9rer les sympt\u00f4mes. Arabie saoudite.<\/p>\n

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En examinant des \u00e9chantillons de 16 patients de 10 familles, dont quatre familles d’Arabie saoudite, les scientifiques ont constat\u00e9 que le CIROZ a un r\u00f4le essentiel dans la rupture de sym\u00e9trie dans le d\u00e9veloppement embryonnaire et comment son inactivation provoque des malformations cardiaques cong\u00e9nitales.<\/p>\n

De l’ext\u00e9rieur, nos corps semblent sym\u00e9triques. \u00c0 gauche et \u00e0 droite se trouvent les yeux et les oreilles \u00e9galement \u00e9loign\u00e9s du nez, tandis que les bras et les jambes poussent des deux c\u00f4t\u00e9s. \u00c0 l’int\u00e9rieur, cependant, nos corps montrent une bonne quantit\u00e9 d’asym\u00e9trie – le c\u0153ur est \u00e0 gauche, tandis que le foie est \u00e0 droite. M\u00eame au stade o\u00f9 notre corps n’est pas plus grand qu’un framboise, les cellules commencent \u00e0 se d\u00e9placer \u00e0 l’int\u00e9rieur de l’embryon afin que tous les organes et les tissus commencent \u00e0 se d\u00e9velopper \u00e0 leur place.<\/p>\n

La perte d’asym\u00e9trie appropri\u00e9e est connue sous le nom de \u00abh\u00e9t\u00e9rotaxie\u00bb, une condition qui se produirait dans 1 naissances sur 10 000 dans le monde. Pour beaucoup, l’h\u00e9t\u00e9rotaxie est asymptomatique et ne provoque aucun changement dans la qualit\u00e9 de vie. Pour d’autres, cependant, les probl\u00e8mes de sant\u00e9 sont mortels, car cinq des 16 personnes examin\u00e9es dans l’\u00e9tude n’ont jamais c\u00e9l\u00e9br\u00e9 leur premier anniversaire en raison de malformations cardiaques.<\/p>\n

En regardant le m\u00eame g\u00e8ne chez diff\u00e9rents animaux, l’\u00e9tude r\u00e9v\u00e8le que Ciroz est particuli\u00e8rement pertinent dans le d\u00e9veloppement appropri\u00e9 des mammif\u00e8res, y compris les humains, sugg\u00e9rant que sa fonction a chang\u00e9 pendant l’\u00e9volution. Cette constatation montre la limitation de l’utilisation d’animaux pour \u00e9tudier l’embryogen\u00e8se humaine et l’importance des scientifiques ayant acc\u00e8s \u00e0 des \u00e9chantillons de patients.<\/p>\n

\u00ab\u00a0Les maladies h\u00e9rit\u00e9es sont les plus r\u00e9pandues au Moyen-Orient, et beaucoup restent inexpliqu\u00e9es. Notre objectif est d’aider au d\u00e9veloppement de meilleurs outils de diagnostic pour les conditions g\u00e9n\u00e9tiques orphelines dans le Royaume. Pour ce faire, nous travaillons constamment avec les h\u00f4pitaux saoudiens pour construire un solide r\u00e9seau de partenariats de recherche qui profite aux patients et \u00e0 leurs familles\u00a0\u00bb, a d\u00e9clar\u00e9 Reversade.<\/p>\n

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

De nouvelles recherches des scientifiques de KAUST ont identifi\u00e9 que le g\u00e8ne \u00ab\u00a0Ciroz\u00a0\u00bb est responsable<\/p>\n","protected":false},"author":1,"featured_media":4657,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[4247,1516,3586,364,16,4248,1617,49,954,3585,4246,97],"class_list":["post-4656","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-anormal","tag-cardiaques","tag-congenitales","tag-decouvrent","tag-des","tag-dorganes","tag-gene","tag-les","tag-lie","tag-malformations","tag-placement","tag-scientifiques","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50"],"yoast_head":"\nLes scientifiques d\u00e9couvrent le g\u00e8ne li\u00e9 \u00e0 un placement anormal d'organes et \u00e0 des malformations cardiaques cong\u00e9nitales - 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-scientifiques-decouvrent-le-gene-lie-a-un-placement-anormal-dorganes-et-a-des-malformations-cardiaques-congenitales\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Les scientifiques d\u00e9couvrent le g\u00e8ne li\u00e9 \u00e0 un placement anormal d'organes et \u00e0 des malformations cardiaques cong\u00e9nitales - 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