Un consorci multic\u00e8ntric internacional amb participaci\u00f3 de l’Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) ha identificat una nova s\u00edndrome mitocondrial caracteritzada per afectaci\u00f3 multisist\u00e8mica amb manifestacions com a retard en el desenvolupament, p\u00e8rdua auditiva o insufici\u00e8ncia ov\u00e0rica prematura.<\/p>\n
A l’estudi, publicat a la prestigiosa revista American Journal of Human Genetics<\/em><\/a>, hi han participat investigadors del grup de Malalties neurometab\u00f2liques<\/a> que lidera la genetista i professora ICREA Aurora Pujol i investigadors de l’Hospital Germans Trias i Pujol, l’Hospital 12 d’Octubre i el Centre de Investigaci\u00f3 Biom\u00e8dica a la Xarxa de Malalties Rares (CIBERER). El treball ha estat coordinat per William G. Newman, de la Universitat de Manchester.<\/p>\n Aquesta nova s\u00edndrome est\u00e0 causada per mutacions en una prote\u00efna (PRORP) que forma part d’un complex (mt-RNase P) vital per al funcionament correcte dels mitocondris, les centrals energ\u00e8tiques de les c\u00e8l\u00b7lules. Els autors han identificat aquestes mutacions en 4 fam\u00edlies que no hi estan relacionades. Les persones afectades presenten quadres cl\u00ednics de diversa gravetat caracteritzats per p\u00e8rdua auditiva, insufici\u00e8ncia ov\u00e0rica, retard en el desenvolupament o canvis degeneratius a la subst\u00e0ncia blanca del cervell (leucodistr\u00f2fia). Aquesta variabilitat en la presentaci\u00f3 cl\u00ednica \u00e9s freq\u00fcent en malalties mitocondrials.<\/p>\n Els autors presenten a l’estudi evid\u00e8ncies gen\u00e8tiques i funcionals que variants bial\u00b7l\u00e8liques (presents als dos al\u00b7lels del gen) a PRORP estan associades amb aquesta nova s\u00edndrome.<\/p>\n “La identificaci\u00f3 gen\u00e8tica d’aquesta nova malaltia facilitar\u00e0 un diagn\u00f2stic m\u00e9s r\u00e0pid en el futur, cosa que permetr\u00e0 oferir un millor consell gen\u00e8tic i abordatge cl\u00ednic, a m\u00e9s d’ampliar el nostre coneixement de la mielina i el desenvolupament neuronal<\/em>“, destaca la Dra. Pujol<\/strong>.<\/p>\n A la investigaci\u00f3, tamb\u00e9 hi ha participat Pilar Quijada, de l’Hospital 12 d’Octubre de Madrid. L’estudi ha estat finan\u00e7at pel programa CIBERER (ACCI19-759), PERIS URD-Cat, La Marat\u00f3 de TV3, el Fons de Recerca Sanitari FIS, i ha comptat amb el suport de l’Associaci\u00f3 Espanyola contra la Leucodistr\u00f2fia (ELA-Espanya ).<\/p>\n <\/p>\n L\u2019Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l’Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l’Institut Catal\u00e0 de la Salut, l’Institut Catal\u00e0 d’Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\n L\u2019IDIBELL \u00e9s membre del Campus d’Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L’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":" “La identificaci\u00f3 gen\u00e8tica d’aquesta nova malaltia facilitar\u00e0 un diagn\u00f2stic m\u00e9s r\u00e0pid en el futur, cosa que permetr\u00e0 oferir un consell gen\u00e8tic i maneig cl\u00ednic precisos”, destaca Aurora Pujol.<\/p>\n","protected":false},"author":8,"featured_media":19406,"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":[380,340,457],"tags":[],"class_list":["post-19405","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-malalties-neurometaboliques","category-neurociencies","category-p-de-neurociencies"],"publishpress_future_action":{"enabled":false,"date":"2024-12-25 05:42:52","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\/19405","targetHints":{"allow":["GET"]}}],"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=19405"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/19405\/revisions"}],"predecessor-version":[{"id":19407,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/19405\/revisions\/19407"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/19406"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=19405"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=19405"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=19405"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}