{"id":13367,"date":"2020-07-07T09:00:50","date_gmt":"2020-07-07T07:00:50","guid":{"rendered":"https:\/\/idibell.cat\/?p=13367"},"modified":"2020-07-07T09:02:04","modified_gmt":"2020-07-07T07:02:04","slug":"un-estudi-proposa-una-nova-aproximacio-per-a-la-identificacio-duna-sindrome-de-predisposicio-a-cancer-infantil","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2020\/07\/un-estudi-proposa-una-nova-aproximacio-per-a-la-identificacio-duna-sindrome-de-predisposicio-a-cancer-infantil\/","title":{"rendered":"Un estudi proposa una nova aproximaci\u00f3 per a la identificaci\u00f3 d&#8217;una s\u00edndrome de predisposici\u00f3 a c\u00e0ncer infantil"},"content":{"rendered":"<p>Maribel Gonz\u00e1lez Acosta, investigadora de l&#8217;Institut de Recerca Biom\u00e8dica de Bellvitge (<a href=\"https:\/\/idibell.cat\/\">IDIBELL<\/a>) i de l&#8217;Associaci\u00f3 Espanyola Contra el C\u00e0ncer de Barcelona (<a href=\"https:\/\/www.aecc.es\/es\">AECC<\/a>), en col\u00b7laboraci\u00f3 amb F\u00e1tima Mar\u00edn i Benjamin Puliafito, han publicat un nou <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31494577\/\">estudi<\/a> dirigit a millorar la identificaci\u00f3 d&#8217;una s\u00edndrome heredit\u00e0ria de predisposici\u00f3 a c\u00e0ncer infantil poc freq\u00fcent i devastador, anomenat <strong>Defici\u00e8ncia Constitucional de Reparaci\u00f3 d&#8217;Errors d&#8217;Aparellament<\/strong> (CMMRD, de l&#8217;angl\u00e8s Constitutional Mismatch Repair Deficiency).<\/p>\n<p>Aquests investigadors del grup de C\u00e0ncer Hereditari de l&#8217;IDIBELL, dirigits per Gabriel Capell\u00e0 i Marta Pineda, han posat a punt una eina de seq\u00fcenciaci\u00f3 gen\u00f2mica per identificar, amb elevada sensibilitat, <strong>mutacions en regions repetitives de l&#8217;ADN anomenades microsat\u00e8l\u00b7lits<\/strong>. Per a aix\u00f2, s&#8217;han utilitzat mostres de sang perif\u00e8rica de 131 persones, entre les quals es trobaven individus sans i pacients amb s\u00edndromes heredit\u00e0ries de predisposici\u00f3 a c\u00e0ncer. Els resultats mostren que la tecnologia desenvolupada permet identificar amb precisi\u00f3 els individus amb CMMRD, ja que presenten una major taxa de mutacions en les regions microsat\u00e8l\u00b7lit de l&#8217;ADN. A m\u00e9s, l&#8217;aproximaci\u00f3 desenvolupada \u00e9s capa\u00e7 de discriminar entre CMMRD i altres malalties amb caracter\u00edstiques cl\u00edniques semblants.<\/p>\n<p>Les regions microsat\u00e8l\u00b7lit s\u00f3n un tipus de seq\u00fc\u00e8ncies repetitives d&#8217;ADN que generalment es troben en regions no codificants, \u00e9s a dir, que no s\u00f3n part de cap gen. La seva naturalesa repetitiva dificulta la seva an\u00e0lisi. En aquest estudi s&#8217;han seleccionat microsat\u00e8l\u00b7lits invariables entre individus i s&#8217;ha desenvolupat una estrat\u00e8gia d&#8217;an\u00e0lisi pr\u00f2pia.<\/p>\n<p>Aquest projecte mostra com l&#8217;optimitzaci\u00f3 de tecnologies per detectar malalties heredit\u00e0ries de predisposici\u00f3 a c\u00e0ncer pot ajudar a millorar el maneig cl\u00ednic i terap\u00e8utic de les persones que les pateixen des d&#8217;edats primerenques.<\/p>\n<p>El treball ha estat possible gr\u00e0cies a l&#8217;estreta col\u00b7laboraci\u00f3 amb el consorci europeu C4CMMRD (Care for CMMRD), i molt especialment gr\u00e0cies al Dr. Daniel Rueda (Hospital Doce de Octubre, Madrid) i la Dra. Katharina Wimmer (Medical University Innsbruck, \u00c0ustria)<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Els pacients amb aquesta s\u00edndrome presenten m\u00e9s mutacions en les regions microsat\u00e8l\u00b7lit del genoma. La detecci\u00f3 d&#8217;aquestes mutacions permet millorar el diagn\u00f2stic d&#8217;aquesta malaltia, aix\u00ed com el maneig cl\u00ednic i terap\u00e8utic de les persones que ho pateixen.<\/p>\n","protected":false},"author":8,"featured_media":13368,"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":[332,417,447],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-14 23:45:41","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/13367"}],"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=13367"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/13367\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/13368"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=13367"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=13367"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=13367"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}