{"id":8225,"date":"2015-02-26T00:00:00","date_gmt":"2015-02-25T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2015\/02\/26\/un-estudi-permetra-identificar-amb-exactitud-els-gens-implicats-en-les-malalties-rares-que-afecten-la-motoneurona\/"},"modified":"2020-05-13T19:47:46","modified_gmt":"2020-05-13T17:47:46","slug":"un-estudi-permetra-identificar-amb-exactitud-els-gens-implicats-en-les-malalties-rares-que-afecten-la-motoneurona","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2015\/02\/un-estudi-permetra-identificar-amb-exactitud-els-gens-implicats-en-les-malalties-rares-que-afecten-la-motoneurona\/","title":{"rendered":"Un estudi permetr\u00e0 identificar amb exactitud els gens implicats en les malalties rares que afecten la motoneurona"},"content":{"rendered":"<p><strong>El 28 de Febrer se celebra el Dia Mundial de les Malalties Rares<\/strong> El coneixement actual sobre la parapar\u00e8sia esp\u00e0stica heredit\u00e0ria i d\u2019altres trastorns que afecten les motoneurones suggereix que la degeneraci\u00f3 de les c\u00e8l\u00b7lules nervioses \u00e9s conseq\u00fc\u00e8ncia final de l\u2019alteraci\u00f3 de diferents processos, com poden ser la composici\u00f3 de mielina, el creixement de neurones i l\u2019adhesi\u00f3 i la senyalitzaci\u00f3 cel\u00b7lular, entre d\u2019altres. Amb l\u2019objectiu de con\u00e8ixer amb exactitud les vies comunes que afecten la neurodegeneraci\u00f3 motora, l\u2019Hospital Universitari de Bellvitge i l\u2019IDIBELL han iniciat un estudi de car\u00e0cter multic\u00e8ntric. <\/p>\n<p> El projecte t\u00e9 com a prop\u00f2sit la identificaci\u00f3 i caracteritzaci\u00f3 metab\u00f2lica i funcional de noves variants de seq\u00fc\u00e8ncia i la identificaci\u00f3 de nous gens implicats en les malalties rares que afecten la motoneurona. \u201cEl que volem es trobar exactament els gens que estan implicats en la neurodegeneraci\u00f3 motora, \u00e9s a dir, aquells que quan estan alterats no produeixen b\u00e9 les prote\u00efnes encarregades de fer funcionar els m\u00fasculs\u201d, explica Carles Carlos Casasnovas, coordinador de l\u2019estudi, facultatiu especialista del Servei de Neurologia de l\u2019Hospital Universitari de Bellvitge i investigador del grup de Malalties neurol\u00f2giques i Neurogen\u00e8tica. D\u2019aquesta manera, s\u2019espera millorar el diagn\u00f2stic d\u2019aquest tipus de malalties i, aix\u00ed, desenvolupar nous f\u00e0rmacs i m\u00e8todes terap\u00e8utics per ser m\u00e9s efectius en el tractament de les persones afectades. <\/p>\n<p> L\u2019estudi se centra en la parapar\u00e8sia esp\u00e0stica familiar, un grup de malalties heredit\u00e0ries que es caracteritzen per la rigidesa progressiva i la contracci\u00f3 (espasticitat) dels m\u00fasculs a causa de la disfunci\u00f3 dels nervis. \u201cEstudiar un grup de malalties heredit\u00e0ries de la motoneurona ens permet saber amb la m\u00e0xima precisi\u00f3 els gens afectats, ja que aquests han de coincidir en tots el familiars malalts, per\u00f2, en canvi, no han de trobar-se en els membres sans\u201d, explica Casasnovas. Els resultats no nom\u00e9s serviran per aquest grup de malalties, sin\u00f3 que tindran repercussi\u00f3 en totes aquelles malalties rares que afecten la primera motoneurona, com l\u2019Esclerosi Lateral Amiotr\u00f2fica (ELA).<\/p>\n<p> \u201cJa hem trobat els primers gens candidats per utilitzar-los en models animals i comprovar si s\u00f3n aquests alguns dels que provoquen la neurodegeneraci\u00f3 motora\u201d, indica l\u2019investigador. Per aconseguir-ho, s\u2019est\u00e0 aplicant metabol\u00f2mica d\u2019alt rendiment, metodologies de seq\u00fcenciaci\u00f3 d\u2019\u00faltima generaci\u00f3 i l\u2019an\u00e0lisi bioinform\u00e0tica integrativa amb eines de biologia de sistemes que analitzen els gens. La comprovaci\u00f3 es realitzar\u00e0 <em>in vitro<\/em>, per biologia molecular i proves bioqu\u00edmiques, i <em>in vivo<\/em> amb la generaci\u00f3 i caracteritzaci\u00f3 funcional dels mutants en el model peix zebra. <\/p>\n<p> El projecte anomenat <em>Biomedicina de sistemes per desentrellar les bases moleculars i modelitzar malalties de la motoneurona corticoespinal<\/em> ha rebut el suport del Ministeri de Sanitat, la Fundaci\u00f3 La Marat\u00f3 i el CIBERER (Xarxa Nacional de Recerca en Malalties Rares). Liderat per Carles Casasnovas, en l\u2019estudi participen l\u2019Hospital Universitari de Bellvitge, el grup de Malalties Neurometab\u00f2liques del centre de recerca IDIBELL, la Fundaci\u00f3 Galega de Medicina Xen\u00f3mica, la Universitat Pompeu Fabra i l\u2019Institut de Recerca Biom\u00e8dica de Lleida.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>El 28 de Febrer se celebra el Dia Mundial de les Malalties Rares<\/p>\n","protected":false},"author":6,"featured_media":10934,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","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":[1],"tags":[],"class_list":["post-8225","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar"],"publishpress_future_action":{"enabled":false,"date":"2025-01-29 05:20:23","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\/8225","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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=8225"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8225\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10934"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8225"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8225"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8225"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}