{"id":18533,"date":"2021-07-26T09:51:48","date_gmt":"2021-07-26T07:51:48","guid":{"rendered":"https:\/\/idibell.cat\/?p=18533"},"modified":"2021-07-26T09:52:15","modified_gmt":"2021-07-26T07:52:15","slug":"descriuen-dues-noves-variants-del-gen-tlr7-que-sassocien-a-formes-greus-de-la-covid-19-en-homes-joves-i-sans","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2021\/07\/descriuen-dues-noves-variants-del-gen-tlr7-que-sassocien-a-formes-greus-de-la-covid-19-en-homes-joves-i-sans\/","title":{"rendered":"Descriuen dues noves variants del gen TLR7 que s\u2019associen a formes greus de la COVID-19 en homes joves i sans"},"content":{"rendered":"<p>L&#8217;edat avan\u00e7ada, el sexe mascul\u00ed o patir certes malalties cr\u00f2niques com la diabetis o l&#8217;obesitat s&#8217;han relacionat amb el desenvolupament de formes greus de COVID-19. Ara, un nou estudi publicat a la revista <a href=\"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2021.719115\/full?&amp;utm_source=Email_to_authors_&amp;utm_medium=Email&amp;utm_content=T1_11.5e1_author&amp;utm_campaign=Email_publication&amp;field=&amp;journalName=Frontiers_in_Immunology&amp;id=719115\"><em>Frontiers in Immunology<\/em><\/a> ha identificat <strong>dues noves variants al gen <em>TLR7<\/em> que podrien predisposar a patir una COVID-19 m\u00e9s severa<\/strong>, i que explicarien per qu\u00e8 alguns homes joves sense antecedents cl\u00ednics desenvolupen pneum\u00f2nia greu per COVID-19.<\/p>\n<p>Aquest estudi dut a terme per l&#8217;Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), l&#8217;Institut Catal\u00e0 d&#8217;Oncologia (ICO), l&#8217;Hospital Universitari de Bellvitge (HUB) i la Universitat de Barcelona (UB) conjuntament amb la Universitat de Radboud dels Pa\u00efsos Baixos ha analitzat la pres\u00e8ncia de variants delet\u00e8ries al gen <em>TLR7<\/em> en 14 homes joves, sense antecedents cl\u00ednics, que havien necessitat respiraci\u00f3 artificial per tractar la COVID-19. La seq\u00fcenciaci\u00f3 completa del gen <em>TLR7<\/em> va posar en evid\u00e8ncia que dos dels pacients presentaven dues noves variants fins ara no descrites al gen <em>TLR7<\/em>. A m\u00e9s, els germans homes d&#8217;aquests dos pacients tamb\u00e9 presentaven les respectives variants de <em>TLR7<\/em> i havien patit una COVID-19 greu.<\/p>\n<p>Aquests resultats recolzen l&#8217;\u00fas de <strong>cribratges gen\u00e8tics<\/strong> a la recerca de mutacions en el gen <em>TLR7<\/em> en homes joves sense aparents factors de risc per a la COVID-19. &#8220;<em>Diagnosticar defici\u00e8ncies en TLR7 no nom\u00e9s ens pot ajudar a escollir el millor tractament pel pacient<\/em> \u2013afirma la <strong>Dra. Conxi L\u00e1zaro<\/strong>, cap del grup de C\u00e0ncer Hereditari de l&#8217;IDIBELL i de l&#8217;ICO i una de les l\u00edders del projecte-, <em>tamb\u00e9 ens pot servir per identificar aquells pacients presimptom\u00e0tics en risc i dur a terme intervencions terap\u00e8utiques prematures<\/em>&#8220;.<\/p>\n<p>El juliol del 2020 es va descriure per primera vegada la relaci\u00f3 entre mutacions del gen <em>TLR7<\/em> i una COVID-19 severa en dues parelles de germans (<a href=\"https:\/\/jamanetwork.com\/journals\/jama\/fullarticle\/2768926\"><em>JAMA<\/em><\/a>). Aquests resultats es van replicar en un estudi itali\u00e0 en el qual es va observar que el 2,1% dels homes menors de seixanta anys amb COVID-19 greu eren portadors de variants patol\u00f2giques de <em>TLR7<\/em>, mentre que aquestes variants no es trobaven en cap cas lleu o asimptom\u00e0tic (<a href=\"https:\/\/elifesciences.org\/articles\/67569\">eLife<\/a>).<\/p>\n<p>Recentment, la Fundaci\u00f3 de <strong>La Marat\u00f3 de TV3<\/strong> ha concedit una ajuda a aquest grup de l&#8217;IDIBELL, l&#8217;ICO, el HUB i la UB per seguir estudiant factors de risc associats a les formes m\u00e9s greus de COVID-19 en pacients aparentment sans.<\/p>\n<p>&nbsp;<\/p>\n<h3>El TLR7, l&#8217;iniciador de la resposta immunit\u00e0ria contra el virus<\/h3>\n<p>El gen que codifica per <em>TLR7<\/em> es troba al cromosoma X, del qual les dones en presenten dues c\u00f2pies i els homes nom\u00e9s una, \u00e9s per aix\u00f2 que alteracions en la seq\u00fc\u00e8ncia d&#8217;ADN d&#8217;aquest gen afectar\u00e0 m\u00e9s als homes.<\/p>\n<p>&#8220;<em>Aquestes troballes reafirmen el paper clau de TLR7 en el reconeixement del SARS-CoV-2 i en la iniciaci\u00f3 d&#8217;una resposta immunit\u00e0ria antiviral primerenca<\/em>&#8220;, afirma el <strong>Dr. Xavier Solanich<\/strong> investigador principal de l&#8217;IDIBELL i especialista del Servei de Medicina Interna de l&#8217;Hospital de Bellvitge. <em>TLR7<\/em> codifica per a un receptor de la superf\u00edcie de c\u00e8l\u00b7lules immunit\u00e0ries que s&#8217;encarrega de recon\u00e8ixer i iniciar la resposta immunit\u00e0ria contra els virus d&#8217;RNA com el SARS-CoV-2.<\/p>\n<p>Tan aquest, com els estudis previs de variants del <em>TLR7<\/em>, han observat que aquestes defici\u00e8ncies en el receptor es tradueixen en alteracions en la <strong>senyalitzaci\u00f3 de la via de l&#8217;interfer\u00f3<\/strong>. Mutacions en la via de senyalitzaci\u00f3 d&#8217;aquesta citocina tamb\u00e9 estan vinculades als casos m\u00e9s greus de COVID-19.<\/p>\n<p>El <strong>Dr. Solanich<\/strong> i el <strong>Dr. Xavier Corbella<\/strong>, tots dos investigadors principals del grup de Malalties Sist\u00e8miques i Envelliment de l&#8217;IDIBELL i del Servei de Medicina Interna del HUB, coincideixen que ara que es coneix millor el mapa de causes moleculars per les quals alguns pacients joves desenvolupen formes greus de la malaltia, es poden utilitzar d&#8217;estrat\u00e8gies de <strong>medicina personalitzada<\/strong> cada cop m\u00e9s afinades que ens ajudin en la gesti\u00f3 de la pand\u00e8mia.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><em>L\u2019Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l&#8217;Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l&#8217;Institut Catal\u00e0 de la Salut, l&#8217;Institut Catal\u00e0 d&#8217;Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\n<p><em>L\u2019IDIBELL \u00e9s membre del Campus d&#8217;Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L&#8217;any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La seq\u00fcenciaci\u00f3 del gen TLR7 en 14 homes joves sense antecedents cl\u00ednics posa en evid\u00e8ncia la pres\u00e8ncia en dos d&#8217;ells de variants gen\u00e8tiques que afecten la resposta immunit\u00e0ria.<\/p>\n","protected":false},"author":8,"featured_media":18534,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"","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":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","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-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-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-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-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-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-gradient":""}},"footnotes":""},"categories":[332,417,427,334,466,447],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-11 11:52:50","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/18533"}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=18533"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/18533\/revisions"}],"predecessor-version":[{"id":18535,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/18533\/revisions\/18535"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/18534"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=18533"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=18533"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=18533"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}