{"id":10092,"date":"2021-01-06T00:07:18","date_gmt":"2021-01-06T05:07:18","guid":{"rendered":"https:\/\/nebula.org\/blog\/genetique-de-maladie-sporadique-de-creutzfeldt-jakob-jones-2020\/"},"modified":"2021-02-20T20:19:51","modified_gmt":"2021-02-21T01:19:51","slug":"genetique-de-maladie-sporadique-de-creutzfeldt-jakob-jones-2020","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/fr\/genetique-de-maladie-sporadique-de-creutzfeldt-jakob-jones-2020\/","title":{"rendered":"Maladie sporadique de Creutzfeldt-Jakob (Jones, 2020)"},"content":{"rendered":"\n

TITRE DE L’\u00c9TUDE:<\/strong> Identification de nouveaux loci de risque et perspectives causales pour la maladie de Creutzfeldt-Jakob sporadique: une \u00e9tude d’association pang\u00e9nomique<\/a><\/p>\n\n

SOMMAIRE:<\/strong> D\u00e9couverte de 4 r\u00e9gions g\u00e9nomiques associ\u00e9es \u00e0 la maladie sporadique de Creutzfeldt-Jakob, une forme de maladie neurod\u00e9g\u00e9n\u00e9rative \u00e0 prions.<\/p>\n\n

APER\u00c7U:<\/strong> Les maladies \u00e0 prions surviennent dans le cerveau lorsque certaines prot\u00e9ines se replient dans la mauvaise configuration, ce qui les am\u00e8ne \u00e0 s’agr\u00e9ger. La neurod\u00e9g\u00e9n\u00e9rescence commence \u00e0 se produire \u00e0 la suite de cette agglutination conduisant \u00e0 une forme progressive et mortelle de d\u00e9mence. Les maladies \u00e0 prions peuvent \u00eatre h\u00e9r\u00e9ditaires (familiales) ou peuvent survenir par la consommation de viande infect\u00e9e (variante), mais la grande majorit\u00e9 des cas sont connus pour se produire spontan\u00e9ment (sporadiques). On sait peu de choses sur ce qui peut rendre un individu plus susceptible de contracter une forme de maladie \u00e0 prion connue sous le nom de maladie sporadique de Creutzfeldt-Jakob (sMCJ). Cette \u00e9tude d’association pang\u00e9nomique a examin\u00e9 plus de 5 000 personnes d’ascendance europ\u00e9enne atteintes de la MCJ afin de mieux comprendre l’influence de la g\u00e9n\u00e9tique sur la maladie. Quatre r\u00e9gions du g\u00e9nome se sont r\u00e9v\u00e9l\u00e9es fortement associ\u00e9es au risque de maladie. En plus d’une variante de la prot\u00e9ine prion elle-m\u00eame, l’\u00e9tude a trouv\u00e9 d’autres variantes \u00e0 proximit\u00e9 de g\u00e8nes connus sous le nom de GAL3ST1, STX6 et BMERB1.<\/p>\n\n

LE SAVIEZ-VOUS?<\/strong> La maladie de la vache folle est un exemple de la variante de la maladie de Creutzfeldt-Jakob. Bien qu’extr\u00eamement rare, la maladie r\u00e9sulte de la consommation de tissu nerveux (tel que le cerveau) d’un animal infect\u00e9. \u00c9tonnamment, les prot\u00e9ines prions infectieuses peuvent supporter une chaleur extr\u00eame et ne peuvent pas \u00eatre simplement neutralis\u00e9es par la cuisson comme des agents pathog\u00e8nes tels que des bact\u00e9ries. M\u00eame les proc\u00e9d\u00e9s de st\u00e9rilisation utilis\u00e9s par les h\u00f4pitaux ne sont pas efficaces pour se d\u00e9barrasser des prot\u00e9ines infectieuses. [SOURCE]<\/a><\/p>\n\n

EXEMPLE DE R\u00c9SULTATS:<\/strong> En savoir plus sur Biblioth\u00e8que de recherche sur la n\u00e9buleuse<\/a> . <\/p>\n\n

\"résultats<\/a><\/figure>\n\n

VARIANTES ASSOCI\u00c9ES \u00c0 LA SCJD:<\/strong> rs179999, rs3747957, rs2267161, rs6498552<\/p>\n\n

RESSOURCES ADDITIONNELLES:<\/strong>Que sont les maladies humaines \u00e0 prions?<\/a>la maladie de Creutzfeldt-Jakob<\/a><\/p>\n\n

VOUS POUVEZ \u00c9GALEMENT \u00caTRE INT\u00c9RESS\u00c9 PAR:<\/strong> Maladie \u00e0 prions (Mead, 2009)<\/a>Scl\u00e9rose en plaques (IMSGC, 2019)<\/a>Maladie d’Alzheimer (Dumitrescu, 2020)<\/a><\/p>\n\n

MISE \u00c0 JOUR HEBDOMADAIRE:<\/strong> 2 octobre 2020<\/p>\n\n

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

TITRE DE L’\u00c9TUDE: Identification de nouveaux loci de risque et perspectives causales pour la maladie de Creutzfeldt-Jakob sporadique: une \u00e9tude d’association pang\u00e9nomique SOMMAIRE: D\u00e9couverte de 4 r\u00e9gions g\u00e9nomiques associ\u00e9es \u00e0 la maladie sporadique de Creutzfeldt-Jakob, une forme de maladie neurod\u00e9g\u00e9n\u00e9rative …<\/p>\n

Maladie sporadique de Creutzfeldt-Jakob (Jones, 2020)<\/span> Lire la suite \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":6895,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"site-sidebar-layout":"default","site-content-layout":"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":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":""},"categories":[4984],"tags":[],"class_list":["post-10092","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rapports"],"yoast_head":"\nLa 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