{"id":21088,"date":"2022-04-05T09:45:47","date_gmt":"2022-04-05T07:45:47","guid":{"rendered":"https:\/\/idibell.cat\/?p=21088"},"modified":"2022-04-05T09:46:14","modified_gmt":"2022-04-05T07:46:14","slug":"identifiquen-un-gen-causant-duna-nova-sindrome-neurologica-i-ossia","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2022\/04\/identifiquen-un-gen-causant-duna-nova-sindrome-neurologica-i-ossia\/","title":{"rendered":"Identifiquen un gen causant d\u2019una nova s\u00edndrome neurol\u00f2gica i \u00f2ssia"},"content":{"rendered":"<p>Un equip internacional coliderat des de l&#8217;IDIBELL i l&#8217;Hospital Necker de Par\u00eds ha identificat\u00a0 <strong>mutacions del gen SLC35B2 <\/strong>com a responsables d&#8217;una s\u00edndrome que, tot i minorit\u00e0ria i desconeguda fins ara, podria estar afectant centenars de persones al m\u00f3n que encara romandrien sense diagn\u00f2stic. Els s\u00edmptomes d&#8217;aquest trastorn inclouen retard global en el neurodesenvolupament, disfuncionalitats motores i deformaci\u00f3 de les articulacions de la columna vertebral i els malucs.<\/p>\n<p>Tal com explica l&#8217;estudi, publicat a la revista <a href=\"https:\/\/academic.oup.com\/brain\/advance-article-abstract\/doi\/10.1093\/brain\/awac110\/6553908?redirectedFrom=fulltext&amp;login=false\"><strong><em>Brain<\/em><\/strong><\/a>, els investigadors han seq\u00fcenciat tot el genoma i han analitzat les dades amb eines computacionals. A m\u00e9s, tamb\u00e9 han demostrat en assajos al laboratori que aquestes mutacions malmeten la prote\u00efna SLC35B2, refor\u00e7ant aix\u00ed la relaci\u00f3 causa-efecte entre la mutaci\u00f3 i el trastorn esmentats.<\/p>\n<p>En aquest cas, el gen implicat codifica per un enzim que \u00e9s una pe\u00e7a clau en el metabolisme dels proteoglicans, mol\u00e8cules essencials en el desenvolupament del cervell i la mielina, una subst\u00e0ncia vital que recobreix les neurones i permet la correcta conducci\u00f3 dels impulsos el\u00e8ctrics entre elles. <strong>Un mal funcionament d&#8217;aquest enzim provoca un tipus de leucodistr\u00f2fia<\/strong> que inclou un greu defecte en la formaci\u00f3 de la mielina i tamb\u00e9 del sistema esquel\u00e8tic.<\/p>\n<p>&nbsp;<\/p>\n<p>Segons la <strong>Dra. Aurora Pujol<\/strong>, co-coordinadora de l&#8217;estudi, cap del <a href=\"https:\/\/idibell.cat\/recerca\/area-de-neurociencies\/programa-de-neurociencies\/malalties-neurometaboliques\/\">grup de recerca en malalties neurometab\u00f2liques<\/a> de l&#8217;IDIBELL, membre del CIBER de Malalties Rares (CIBERER) i investigadora ICREA, &#8220;<strong><em>aquesta troballa permetr\u00e0 identificar molts m\u00e9s casos de persones amb problemes neurol\u00f2gics i esquel\u00e8tics similars<\/em><\/strong><em>, per\u00f2 que fins ara romanien sense diagn\u00f2stic, a vegades durant m\u00e9s de 10 anys, i tamb\u00e9 <strong>obre la porta a trobar un tractament per aquests pacients<\/strong>. Tamb\u00e9 ens dona llum sobre els elements necessaris per la formaci\u00f3 de la mielina del cervell, que pot servir per comprendre millor malalties similars i molt m\u00e9s freq\u00fcents com la esclerosi m\u00faltiple.<\/em>\u201d<\/p>\n<p><strong>La gen\u00e8tica de les leucodistr\u00f2fies<\/strong><\/p>\n<p style=\"font-size: 16px; font-style: normal; font-weight: 400;\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-21091 alignright\" src=\"https:\/\/idibell.cat\/wp-content\/uploads\/2022\/04\/NP11-A-Pujo_Brain-Imatge-pacient-300x169.png\" alt=\"\" width=\"300\" height=\"169\" srcset=\"https:\/\/idibell.cat\/wp-content\/uploads\/2022\/04\/NP11-A-Pujo_Brain-Imatge-pacient-300x169.png 300w, https:\/\/idibell.cat\/wp-content\/uploads\/2022\/04\/NP11-A-Pujo_Brain-Imatge-pacient-1024x576.png 1024w, https:\/\/idibell.cat\/wp-content\/uploads\/2022\/04\/NP11-A-Pujo_Brain-Imatge-pacient-768x432.png 768w, https:\/\/idibell.cat\/wp-content\/uploads\/2022\/04\/NP11-A-Pujo_Brain-Imatge-pacient.png 1100w\" sizes=\"(max-width: 300px) 100vw, 300px\" \/><\/p>\n<p><strong>Les leucodistr\u00f2fies s\u00f3n malalties gen\u00e8tiques rares<\/strong> que afecten el sistema nervi\u00f3s. S\u00f3n molt severes i tenen mal pron\u00f2stic, amb poques opcions terap\u00e8utiques tot i que la ter\u00e0pia g\u00e8nica \u00e9s prometedora en malalties com l\u2019adrenoleucodistr\u00f2fia o la leucodistr\u00f2fia metacrom\u00e0tica. <strong>Fins ara s&#8217;han identificat m\u00e9s de 150 gens causants de leucodistr\u00f2fies.<\/strong><\/p>\n<p>En els darrers anys, aquest grup de recerca ha pogut identificar altres noves s\u00edndromes neurol\u00f2giques causades pels gens DLG4, UBAP1, PI4KA, PRORP, o DEGS1. L&#8217;<strong>estrat\u00e8gia de medicina gen\u00f2mica de precisi\u00f3 per al diagn\u00f2stic<\/strong> emprada pel grup de la Dra. Pujol consisteix en seq\u00fcenciar el genoma dels pacients i desenvolupar noves eines d&#8217;an\u00e0lisi computacional avan\u00e7ades per identificar nous gens responsables de malalties. Els millors gens candidats es confirmen trobant m\u00e9s pacients amb s\u00edmptomes i mutacions similars en bases de dades globals, com per exemple <a href=\"https:\/\/genematcher.org\/\">GeneMatcher<\/a>.<\/p>\n<p>Aquest projecte ha estat finan\u00e7at amb fons de la Fundaci\u00f3 La Marat\u00f3 de TV3, el projecte PERIS-URDCat de Medicina Gen\u00f2mica del Departament de Salut de la Generalitat, la Fundaci\u00f3 Hesperia, el Ministeri de Sanitat i el CIBERER, amb la col.laboraci\u00f3 d\u2019associacions de fam\u00edlies (ELA-Espa\u00f1a).<\/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>Un equip internacional coliderat des de l&#8217;IDIBELL i l&#8217;Hospital Necker de Par\u00eds ha identificat\u00a0 mutacions del gen SLC35B2 com a responsables d&#8217;una s\u00edndrome que, tot i minorit\u00e0ria i desconeguda fins ara, podria estar afectant centenars de persones al m\u00f3n que encara romandrien sense diagn\u00f2stic. Els s\u00edmptomes d&#8217;aquest trastorn inclouen retard global en el neurodesenvolupament, disfuncionalitats [&hellip;]<\/p>\n","protected":false},"author":8,"featured_media":21089,"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-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":[380,340,457],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-09 21:25:55","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/21088"}],"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=21088"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/21088\/revisions"}],"predecessor-version":[{"id":21092,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/21088\/revisions\/21092"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/21089"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=21088"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=21088"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=21088"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}