{"id":23991,"date":"2023-07-11T09:50:57","date_gmt":"2023-07-11T07:50:57","guid":{"rendered":"https:\/\/idibell.cat\/?p=23991"},"modified":"2023-07-11T09:20:35","modified_gmt":"2023-07-11T07:20:35","slug":"un-model-de-cor-fet-amb-cellules-mare-revela-per-que-una-mateixa-mutacio-afecta-de-manera-diferent-dos-germans-amb-la-mateixa-malaltia-cardiaca","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2023\/07\/un-model-de-cor-fet-amb-cellules-mare-revela-per-que-una-mateixa-mutacio-afecta-de-manera-diferent-dos-germans-amb-la-mateixa-malaltia-cardiaca\/","title":{"rendered":"Un model de cor fet amb c\u00e8l\u00b7lules mare revela per qu\u00e8 una mateixa mutaci\u00f3 afecta de manera diferent dos germans amb la mateixa malaltia card\u00edaca"},"content":{"rendered":"<p>Una de les m\u00e0ximes per les quals es regeixen els experts \u00e9s que no nom\u00e9s una mutaci\u00f3 defineix una malaltia: hi ha molts altres factors que intervenen i que fan que cada pacient sigui diferent. Un exemple clar \u00e9s el cas de dos germans afectats de <strong>cardiomiopatia hipertr\u00f2fica<\/strong>, l&#8217;afecci\u00f3 card\u00edaca heredit\u00e0ria m\u00e9s comuna. Tots dos s\u00f3n portadors de la mateixa mutaci\u00f3 que causa la malaltia, per\u00f2 un presenta una cardiomiopatia molt m\u00e9s greu que l&#8217;altre. Per donar explicaci\u00f3 a aquestes difer\u00e8ncies, un equip de l&#8217;Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) ha generat un model cel\u00b7lular de cor a partir de c\u00e8l\u00b7lules mare procedents dels dos germans.<\/p>\n<p>El treball, dut a terme en col\u00b7laboraci\u00f3 amb investigadors de la Unitat de Cardiopaties Familiars del Complex Hospitalari Universitari de la Corunya, de l&#8217;Hospital Josep Trueta de Girona, i del Centre Nacional d&#8217;Investigacions Cardiovasculars (CNIC), ha estat publicat a la revista cient\u00edfica <a href=\"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/CIRCRESAHA.122.321951?rfr_dat=cr_pub++0pubmed&amp;url_ver=Z39.88-2003&amp;rfr_id=ori%3Arid%3Acrossref.org\"><em>Circulation Research<\/em><\/a> i demostra que <strong>la major severitat en la cardiopatia d&#8217;uns dels germans \u00e9s deguda a una variant gen\u00e8tica<\/strong>, addicional a la mutaci\u00f3 original, nom\u00e9s present en ell. Gr\u00e0cies al model s&#8217;ha pogut trobar la causa de la patologia m\u00e9s severa sense la necessitat de fer un estudi epidemiol\u00f2gic m\u00e9s gran, amb un nombre molt m\u00e9s gran de pacients i invertint molt m\u00e9s temps i diners.<\/p>\n<p>&#8220;<em>Con\u00e8ixer les variants gen\u00e8tiques individuals responsables de cadascuna de les manifestacions patol\u00f2giques \u00e9s el primer pas per buscar el tractament m\u00e9s efectiu per a aquest pacient en concret<\/em>&#8220;, explica <strong>Dr. \u00c1ngel Raya<\/strong>, l\u00edder del projecte, que \u00e9s Professor de Recerca ICREA a l&#8217;IDIBELL, on coordina el Programa de Medicina Regenerativa, i director del Programa de Translaci\u00f3 Cl\u00ednica de Medicina Regenerativa de Catalunya (P-CMR[C]). &#8220;<em>En el model de cor amb c\u00e8l\u00b7lules mare podem modificar els gens, interrogar-los directament per desxifrar quina variant \u00e9s la responsable de la patologia m\u00e9s severa d&#8217;un dels germans<\/em>&#8220;, afegeix el <strong>Dr. Rub\u00e9n Escrib\u00e1<\/strong>, primer autor del treball.<\/p>\n<p>&nbsp;<\/p>\n<h3>Cors germans al laboratori<\/h3>\n<p>Per generar el model protagonista d&#8217;aquest treball es va fer una bi\u00f2psia de pell a cadascun dels germans. Les c\u00e8l\u00b7lules obtingudes es van transformar en c\u00e8l\u00b7lules mare que despr\u00e9s es van diferenciar en cardiomi\u00f2cits, c\u00e8l\u00b7lules del cor. En cultiu, aquestes c\u00e8l\u00b7lules s\u00f3n capa\u00e7os fins i tot de bategar espont\u00e0niament.<\/p>\n<div class=\"ast-oembed-container \" style=\"height: 100%;\"><iframe loading=\"lazy\" title=\"Latidos 2D\" width=\"500\" height=\"281\" src=\"https:\/\/www.youtube.com\/embed\/0aHZMD-GoS0?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe><\/div>\n<p>L&#8217;equip de l&#8217;IDIBELL va aprofitar les darreres eines d&#8217;edici\u00f3 gen\u00e8tica per CRISPR per identificar les variants gen\u00e8tiques de cada germ\u00e0 i jugar a afegir-les o treure-les al model de cor per resoldre quines eren les responsables de cada manifestaci\u00f3 patol\u00f2gica.<\/p>\n<p>Els investigadors van comprovar que el germ\u00e0 afectat de manera m\u00e9s severa era l&#8217;\u00fanic que presentava una variant gen\u00e8tica addicional a la mutaci\u00f3 original que provocava que <strong>les seves c\u00e8l\u00b7lules no es contraguessin correctament<\/strong>. Els diferents assaigs funcionals amb el model de cor van demostrar que aquesta variant era la responsable que present\u00e9s unes manifestacions cl\u00edniques molt m\u00e9s greus que la seva germana. &#8220;<em>Aquest tipus de models ens permeten apropar-nos cada dia m\u00e9s a la medicina personalitzada<\/em> \u2013destaca el <strong>Dr. Raya<\/strong>, que tamb\u00e9 \u00e9s membre del Centre de Recerca Biom\u00e8dica en Xarxa en Biomaterials i Nanomedicina (CIBER-BBN)\u2013 <em>analitzant en profunditat cada cas i oferint un tractament individualitzat m\u00e9s efica\u00e7 i amb menys efectes secundaris no desitjats<\/em>&#8220;.<\/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>Gr\u00e0cies al model, l&#8217;equip de l&#8217;IDIBELL ha detectat que un dels germans presentava una variaci\u00f3 gen\u00e8tica addicional responsable d&#8217;una severitat m\u00e9s gran en la patologia. Aquest tipus de models ofereixen la possibilitat de con\u00e8ixer detalladament la patologia de cada pacient i de dissenyar un abordatge individualitzat.<\/p>\n","protected":false},"author":8,"featured_media":23992,"comment_status":"closed","ping_status":"open","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":[349,482,483],"tags":[],"class_list":["post-23991","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medicina-regenerativa","category-p-de-medicina-regenerativa","category-potencia-de-cellules-mare"],"publishpress_future_action":{"enabled":false,"date":"2024-11-12 00:13:05","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/23991"}],"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=23991"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/23991\/revisions"}],"predecessor-version":[{"id":23993,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/23991\/revisions\/23993"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/23992"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=23991"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=23991"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=23991"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}