{"id":23503,"date":"2023-04-11T10:24:30","date_gmt":"2023-04-11T08:24:30","guid":{"rendered":"https:\/\/idibell.cat\/?p=23503"},"modified":"2023-04-11T11:06:58","modified_gmt":"2023-04-11T09:06:58","slug":"generen-un-model-basat-en-cellules-mare-que-permet-estudiar-una-malaltia-ultrarara-que-causa-parkinsonisme-infantil","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2023\/04\/generen-un-model-basat-en-cellules-mare-que-permet-estudiar-una-malaltia-ultrarara-que-causa-parkinsonisme-infantil\/","title":{"rendered":"Generen un model basat en c\u00e8l\u00b7lules mare que permet estudiar una malaltia ultrarara que causa parkinsonisme infantil"},"content":{"rendered":"<p>Un equip d&#8217;investigadores de l&#8217;Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), l&#8217;Institut de Recerca Sant Joan de D\u00e9u (IRSJD) i la UB han presentat un nou model, basat en c\u00e8l\u00b7lules mare humanes, d&#8217;una malaltia gen\u00e8tica ultrarara que afecta els infants anomenada <strong>Defici\u00e8ncia de la Tirosina Hidroxilassa<\/strong> (THD, de les seves sigles en angl\u00e8s).<\/p>\n<p>El THD causa una disminuci\u00f3 important de dopamina al cervell, un dels neurotransmissors m\u00e9s importants del sistema nervi\u00f3s central, i <strong>sol afectar a pacients pedi\u00e0trics ocasionant parkinsonisme infantil<\/strong>. Alguns pacients milloren molt amb el tractament, per\u00f2 d&#8217;altres s\u00f3n refractaris i continuen amb s\u00edmptomes greus de motilitat i discapacitat intel\u00b7lectual.<\/p>\n<p>El model publicat a la revista <a href=\"https:\/\/www.embopress.org\/doi\/full\/10.15252\/emmm.202215847\"><em>EMBO Molecular Medicine<\/em><\/a>, i que reprodueix fidelment les caracter\u00edstiques patol\u00f2giques de la malaltia, s&#8217;ha creat <strong>a partir de c\u00e8l\u00b7lules de la pell de pacients reprogramades<\/strong> en c\u00e8l\u00b7lules mare pluripotents, capaces de convertir-se a qualsevol tipus cel\u00b7lular, i que posteriorment s&#8217;han diferenciat a neurones.<\/p>\n<p>&#8220;<em>El model proporciona una eina molt valuosa per investigar els mecanismes patog\u00e8nics de la THD, aix\u00ed com per al desenvolupament de noves ter\u00e0pies que millorin la gesti\u00f3 dels pacients. Incl\u00fas pot ajudar a la implantaci\u00f3 de <strong>ter\u00e0pies personalitzades<\/strong>, ja que no tots els pacients responen al tractament<\/em>&#8220;, explica la <strong>Dra. Antonella Consiglio<\/strong>, cap de grup a l&#8217;IDIBELL, la Facultat de Medicina i Ci\u00e8ncies de la Salut i l&#8217;Institut de Biomedicina de la Universitat de Barcelona (IBUB), professora i investigadora ICREA Acad\u00e8mia, i una de les l\u00edders del projecte.<\/p>\n<p>La <strong>Dra. Alba Trist\u00e1n Noguero<\/strong>, investigadora postdoctoral a l\u2019Institut de Recerca de Sant Pau (IIB Sant Pau) i al Departament de Gen\u00e8tica, Microbiologia i Estad\u00edstica de la Facultat de Biologia de la UB i primera autora firmant del treball, ens explica que tal com passa a nivell fisiol\u00f2gic, les neurones diferenciades a partir de c\u00e8l\u00b7lules mare dels pacients presenten nivells molt baixos de dopamina. A m\u00e9s, aquestes neurones mostren defectes morfol\u00f2gics que no s&#8217;havien aconseguit detectar amb altres aproximacions experimentals.<\/p>\n<p>El model tamb\u00e9 aconsegueix reproduir la resposta al tractament que s&#8217;havia observat en pacients. El tractament amb dopamina nom\u00e9s aconsegueix revertir els s\u00edmptomes d&#8217;aquells pacients amb una THD lleu, en canvi, els pacients severs no responen al tractament i acaben desenvolupant afectacions cognitives.<\/p>\n<p>Una de les observacions m\u00e9s esperan\u00e7adores del treball \u00e9s que, en el model que reprodueix la condici\u00f3 m\u00e9s severa de THD, <strong>l&#8217;administraci\u00f3 primerenca de dopamina<\/strong>, quan les neurones encara s&#8217;estan diferenciant, <strong>s\u00ed que aconsegueix prevenir els defectes de la malaltia<\/strong>. Aquest resultat suggereix que el tractament podria funcionar en els pacients m\u00e9s severs si s&#8217;aplica durant el desenvolupament del cervell.<\/p>\n<p>&#8220;<em>Aquest \u00e9s el primer model de THD capa\u00e7 de reproduir les caracter\u00edstiques dels pacients lleus i severs de manera diferencial, i que a m\u00e9s reprodueix la seva diferent resposta al tractament<\/em>&#8221; apunta la <strong>Dra. \u00c0ngels Garc\u00eda Cazorla<\/strong>, neur\u00f2loga infantil cap de la Unitat de Malalties Metab\u00f2liques de l\u2019Hospital Sant Joan de D\u00e9u Barcelona i\u00a0 cap de grup a l\u2019IRSJD, membre de la Facultat de Medicina i Ci\u00e8ncies de la Salut de la UB i del Centro de Recerca Biom\u00e8dica en Xarxa de Malalties Rares (CIBERER), i col\u00edder del projecte.<\/p>\n<p>Aquest treball tamb\u00e9 ha comptat amb la participaci\u00f3 de Irene Fern\u00e1ndez-Carasa, Carles Calatayud, Arianna Colini Baldeschi, Meritxell Pons-Espinal i \u00c1ngel Raya de l&#8217;IDIBELL i la UB. Cristina Bermejo-Casades\u00fas, Merc\u00e8 Pineda, Rafael Artuch de l&#8217;IRSJD. Leticia Campa, Francesc Artigas, Analia Bortolozzi de l&#8217;IDIBAPS. Rosario Domingo-Jim\u00e9nez i Salvador Ib\u00e1\u00f1ez del Hospital Virgen de la Arrixaca i el Instituto Murciano de Investigaci\u00f3n Biosanitaria Virgen de la Arrixaca (IMIB).<\/p>\n<p>El treball s&#8217;engloba dintre del projecte d&#8217;estudi del parkinsonisme infantil finan\u00e7at per la fundaci\u00f3 Marat\u00f3 TV3 i del qual s\u00f3n investigadores les dues co-l\u00edders d&#8217;aquest estudi. El treball tamb\u00e9 ha rebut el suport de l&#8217;European Research Council (ERC), el Ministerio de Econom\u00eda y Competitividad (MINECO), el Ministerio de Ci\u00e9ncia e Innovaci\u00f3n (MCIN), los Fondos Next Generation (EU), el Instituto de Salud Carlos III (ISCIII), el Fondo Europeo de Desarrollo Regional (FEDER), i la Agencia Estatal de Investigaci\u00f3n (AEI).<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><em>L\u2019<strong>Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) <\/strong>\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 d\u2019investigadores de l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), l\u2019Institut de Recerca de Sant Joan de D\u00e9u (IRSJD), l\u2019Institut de Recerca de Sant Pau (IIB Sant Pau) i la UB, han generat el primer model d\u2019aquesta malaltia que permet reproduir les caracter\u00edstiques i la resposta al tractament que tenen els pacients.<\/p>\n","protected":false},"author":8,"featured_media":23504,"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 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