{"id":6340,"date":"2025-05-08T02:56:22","date_gmt":"2025-05-08T00:56:22","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/le-test-moleculaire-avance-peut-ameliorer-le-diagnostic-dune-forme-genetique-de-mpoc\/"},"modified":"2025-05-08T02:56:26","modified_gmt":"2025-05-08T00:56:26","slug":"le-test-moleculaire-avance-peut-ameliorer-le-diagnostic-dune-forme-genetique-de-mpoc","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/le-test-moleculaire-avance-peut-ameliorer-le-diagnostic-dune-forme-genetique-de-mpoc\/","title":{"rendered":"Le test mol\u00e9culaire avanc\u00e9 peut am\u00e9liorer le diagnostic d&rsquo;une forme g\u00e9n\u00e9tique de MPOC"},"content":{"rendered":"<div>\n<div class=\"article-gallery lightGallery\">\n<div data-thumb=\"https:\/\/scx1.b-cdn.net\/csz\/news\/tmb\/2025\/advanced-molecular-tes.jpg\" data-src=\"https:\/\/scx2.b-cdn.net\/gfx\/news\/hires\/2025\/advanced-molecular-tes.jpg\" data-sub-html=\"Illustrations showing the 23 SERPINA1 single nucleotide polymorphisms (23-SNP AAT) assay design. Credit: &lt;i&gt;CHEST Pulmonary&lt;\/i&gt; (2024). DOI: 10.1016\/j.chpulm.2024.100076\">\n<figure class=\"article-img\">\n<\/figure><\/div>\n<\/div>\n<p>Des chercheurs nationaux de sant\u00e9 juive avec les laboratoires diagnostiques avanc\u00e9s ont d\u00e9velopp\u00e9 un test de diagnostic mol\u00e9culaire capable de diagnostiquer avec pr\u00e9cision une cause g\u00e9n\u00e9tique majeure de maladie pulmonaire obstructive chronique (MPOC) connue sous le nom de carence en antitrynchronisation alpha-1 (AATD).<\/p>\n<p>Le nouveau test antitrypsine (AAT) de 23-SNP, comme d\u00e9crit dans une \u00e9tude r\u00e9cente publi\u00e9e dans <i>Pulmonaire thoracique<\/i>am\u00e9liore consid\u00e9rablement la vitesse et la pr\u00e9cision du diagnostic AATD en identifiant plusieurs mutations g\u00e9n\u00e9tiques associ\u00e9es \u00e0 la maladie. Le test traite d&rsquo;un d\u00e9fi de longue date dans la communaut\u00e9 m\u00e9dicale.<\/p>\n<p>L&rsquo;AATD et la MPOC sont des conditions qui peuvent entra\u00eener des probl\u00e8mes respiratoires, mais ils diff\u00e8rent dans leur cause et leur h\u00e9ritage. L&rsquo;AATD est une affection g\u00e9n\u00e9tique o\u00f9 le corps ne produit pas suffisamment de prot\u00e9ine protectrice, tandis que la MPOC est g\u00e9n\u00e9ralement caus\u00e9e par une exposition \u00e0 long terme aux irritants comme la fum\u00e9e de cigarette.<\/p>\n<p>L&rsquo;AATD est la deuxi\u00e8me maladie pulmonaire g\u00e9n\u00e9tique la plus courante aux \u00c9tats-Unis, derri\u00e8re la fibrose kystique. Affectant gravement environ 1 sur 3 000 \u00e0 1 individus sur 5 000, il est estim\u00e9 \u00e0 environ 100 000 Am\u00e9ricains, bien que de nombreux autres cas soient actuellement non diagnostiqu\u00e9s.<\/p>\n<p>\u00ab\u00a0L&rsquo;AATD est largement sous-diagnostiqu\u00e9, entra\u00eenant des retards de traitement qui peuvent aggraver les r\u00e9sultats de la maladie\u00a0\u00bb, a d\u00e9clar\u00e9 Yongbao Wang, Ph.D., chercheur principal et auteur principal du journal. \u00ab\u00a0Notre test fournit une solution de g\u00e9notypage pr\u00e9cise, compl\u00e8te et rapide qui peut \u00eatre mise en \u0153uvre comme un outil de diagnostic de premi\u00e8re ligne.\u00a0\u00bb<\/p>\n<p>L&rsquo;\u00e9tude a valid\u00e9 le test en utilisant 373 \u00e9chantillons biologiques, d\u00e9montrant sa capacit\u00e9 \u00e0 d\u00e9tecter 20 mutations pathog\u00e8nes dans le g\u00e8ne Serpina1, responsable de la production de prot\u00e9ines AAT, ainsi que deux variantes normales et une variante suppl\u00e9mentaire qui est toujours \u00e0 l&rsquo;\u00e9tude. Le test \u00e9largit le nombre de g\u00e9notypes identifiables \u00e0 partir de tests actuellement disponibles, y compris des all\u00e8les moins communs tels que F, I et certains all\u00e8les nuls.<\/p>\n<p>Les r\u00e9sultats ont montr\u00e9 une pr\u00e9cision de 100% dans l&rsquo;identification des mutations anormales chez les patients touch\u00e9s par l&rsquo;AATD, surpassant de mani\u00e8re significative la m\u00e9thode de gel de mise au point iso\u00e9lectrique traditionnelle et d&rsquo;autres tests mol\u00e9culaires ne d\u00e9tectant que les all\u00e8les S et Z. Les chercheurs pensent que ce test pourrait ouvrir la voie aux programmes de d\u00e9pistage du nouveau-n\u00e9 et \u00e0 la collection \u00e0 domicile, am\u00e9liorant davantage les efforts de d\u00e9tection pr\u00e9coce.<\/p>\n<p>\u00ab\u00a0Il s&rsquo;agit d&rsquo;un pas en avant significatif pour les cliniciens et les patients\u00a0\u00bb, a d\u00e9clar\u00e9 Sharon Kuss-Duerkop, Ph.D., scientifique principal chez National Jewish Health. \u00ab\u00a0Avec des r\u00e9sultats plus rapides et plus fiables, nous pouvons diagnostiquer AATD plus t\u00f4t et commencer les traitements appropri\u00e9s, pr\u00e9venant potentiellement des complications de poumon et de foie s\u00e9v\u00e8res.\u00a0\u00bb<\/p>\n<p>Le test AAT 23-SNP est int\u00e9gr\u00e9 \u00e0 la pratique clinique de la sant\u00e9 juive nationale depuis 2022, o\u00f9 il est utilis\u00e9 pour tester des \u00e9chantillons de patients dans un cadre de diagnostic de routine. Le test de diagnostic est d\u00e9sormais accessible aux cliniciens par le biais des laboratoires de diagnostic avanc\u00e9s de la sant\u00e9 juive nationale.<\/p>\n<p>                                        <!-- print only --><\/p><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Des chercheurs nationaux de sant\u00e9 juive avec les laboratoires diagnostiques avanc\u00e9s ont d\u00e9velopp\u00e9 un test<\/p>\n","protected":false},"author":1,"featured_media":6341,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[1021,5214,1391,284,379,944,2600,4165,669,1390],"class_list":["post-6340","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-ameliorer","tag-avance","tag-diagnostic","tag-dune","tag-forme","tag-genetique","tag-moleculaire","tag-mpoc","tag-peut","tag-test","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.4 - 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