{"id":13842,"date":"2020-07-07T09:00:54","date_gmt":"2020-07-07T07:00:54","guid":{"rendered":"https:\/\/idibell.cat\/es\/?p=13842"},"modified":"2020-07-07T09:02:18","modified_gmt":"2020-07-07T07:02:18","slug":"un-estudio-propone-una-nueva-aproximacion-para-la-identificacion-de-un-sindrome-de-predisposicion-a-cancer-infantil","status":"publish","type":"post","link":"https:\/\/idibell.cat\/es\/2020\/07\/un-estudio-propone-una-nueva-aproximacion-para-la-identificacion-de-un-sindrome-de-predisposicion-a-cancer-infantil\/","title":{"rendered":"Un estudio propone una nueva aproximaci\u00f3n para la identificaci\u00f3n de un s\u00edndrome de predisposici\u00f3n a c\u00e1ncer infantil"},"content":{"rendered":"

Maribel Gonz\u00e1lez Acosta, investigadora del Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge (IDIBELL<\/a>) y de la Asociaci\u00f3n Espa\u00f1ola Contra el C\u00e1ncer de Barcelona (AECC<\/a>), en colaboraci\u00f3n con F\u00e1tima Mar\u00edn y Benjamin Puliafito, han publicado un nuevo estudio<\/a> dirigido a mejorar la identificaci\u00f3n de un s\u00edndrome hereditario de predisposici\u00f3n a c\u00e1ncer infantil poco frecuente y devastador, llamado Deficiencia Constitucional\u00a0de\u00a0Reparaci\u00f3n\u00a0de Errores de\u00a0Apareamiento<\/strong> (CMMRD, del ingl\u00e9s Constitutional Mismatch Repair Deficiency)<\/em>.<\/em><\/p>\n

Estos investigadores del grupo de C\u00e1ncer Hereditario del IDIBELL, dirigidos por Gabriel Capell\u00e1 y Marta Pineda, han puesto a punto una herramienta de secuenciaci\u00f3n gen\u00f3mica para identificar, con elevada sensibilidad, mutaciones en regiones repetitivas del ADN llamadas microsat\u00e9lites<\/strong>. Para ello, han utilizado muestras de sangre perif\u00e9rica de 131 personas, entre las que se encontraban individuos sanos y pacientes con s\u00edndromes hereditarios de predisposici\u00f3n a c\u00e1ncer. Los resultados muestran que la tecnolog\u00eda desarrollada permite identificar con precisi\u00f3n los individuos con CMMRD, ya que presentan una mayor tasa de mutaciones en las regiones microsat\u00e9lite del ADN. Adem\u00e1s, la aproximaci\u00f3n desarrollada es capaz de discriminar entre CMMRD y otras enfermedades con caracter\u00edsticas cl\u00ednicas parecidas.<\/p>\n

Las regiones microsat\u00e9lite son un tipo de secuencias repetitivas de ADN que generalmente se encuentran en regiones no codificantes, es decir, que no son parte de ning\u00fan gen. Su naturaleza repetitiva dificulta su an\u00e1lisis. En este estudio se han seleccionado microsat\u00e9lites invariables entre individuos y se ha desarrollado una estrategia de an\u00e1lisis propia.<\/p>\n

Este proyecto muestra como la optimizaci\u00f3n de tecnolog\u00edas para detectar enfermedades hereditarias de predisposici\u00f3n a c\u00e1ncer puede ayudar a mejorar el manejo cl\u00ednico y terap\u00e9utico de las personas que las padecen desde edades tempranas.<\/p>\n

El trabajo ha sido posible gracias a la estrecha colaboraci\u00f3n con el consorcio europeo C4CMMRD (Care for CMMRD), y muy especialmente gracias al Dr. Daniel Rueda (Hospital Doce de Octubre, Madrid) y la Dra. Katharina Wimmer (Medical University Innsbruck, Austria).<\/p>\n","protected":false},"excerpt":{"rendered":"

Los pacientes con este s\u00edndrome presentan m\u00e1s mutaciones en las regiones microsat\u00e9lite del genoma. La detecci\u00f3n de estas mutaciones permite mejorar el diagn\u00f3stico de esta enfermedad, as\u00ed como el manejo cl\u00ednico y terap\u00e9utico de las personas que lo padecen.<\/p>\n","protected":false},"author":8,"featured_media":13843,"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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[184,250,281],"tags":[],"class_list":["post-13842","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-area-cancer","category-cancer-hereditario","category-programa-de-mecanismos-moleculares-y-terapia-experimental-en-oncologia-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2025-01-29 05:46:07","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/13842","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/comments?post=13842"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/13842\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/13843"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=13842"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=13842"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=13842"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}