{"id":18530,"date":"2021-07-23T10:15:24","date_gmt":"2021-07-23T08:15:24","guid":{"rendered":"https:\/\/idibell.cat\/?p=18530"},"modified":"2021-07-23T10:15:43","modified_gmt":"2021-07-23T08:15:43","slug":"nous-avencos-en-la-comprensio-de-la-fisiopatologia-de-la-malaltia-minoritaria-del-cervell-leucoencefalopatia-megalencefalica-mlc","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2021\/07\/nous-avencos-en-la-comprensio-de-la-fisiopatologia-de-la-malaltia-minoritaria-del-cervell-leucoencefalopatia-megalencefalica-mlc\/","title":{"rendered":"Nous aven\u00e7os en la comprensi\u00f3 de la fisiopatologia de la malaltia minorit\u00e0ria del cervell Leucoencefalopatia megalencefalica (MLC)"},"content":{"rendered":"<p>La MLC \u00e9s una malaltia gen\u00e8tica que afecta la mielina del sistema nervi\u00f3s central, la mat\u00e8ria blanca. Es tracta d\u2019un tipus de leucodistr\u00f3fia caracteritzada per megaloencef\u00e0lia deguda a un increment en la quantitat d\u2019aigua en el cervell. Els pacients que la pateixen presenten epil\u00e8psia, at\u00e0xia i problemes cognitius lleus. Aquesta malaltia \u00e9s causada per <strong>mutacions en els gens MLC1 i GLIALCAM<\/strong>, que codifiquen per dues prote\u00efnes de membrana de funci\u00f3 desconeguda. Malauradament, encara no existeix cap tractament pels pacients que la pateixen.<\/p>\n<p>Un <a href=\"https:\/\/idibell.cat\/recerca\/area-de-medicina-translacional\/programa-de-gens-malaltia-i-terapia\/fisiologia-i-patologia-de-la-relacio-funcional-glia-neurona\/\">grup de recerca de l&#8217;IDIBELL<\/a>, la Universitat de Barcelona, Institut de Neuroci\u00e8ncies de la UB i el CIBERER, ha publicat dos articles en els quals s\u2019avan\u00e7a en la comprensi\u00f3 de la fisiopatologia de la MLC. En aquests treballs es descriuen diverses <strong>prote\u00efnes que interaccionen amb GlialCAM<\/strong>, el gen de la qual es troba mutat en els pacients amb MLC.<\/p>\n<p>En primer lloc, un article publicat a la revista <a href=\"https:\/\/www.cell.com\/neuron\/fulltext\/S0896-6273(21)00378-0?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0896627321003780%3Fshowall%3Dtrue\"><em>Neuron<\/em><\/a>, liderat per Cagla Eroglu de la Universitat de Duke, i en el que hi ha participat l&#8217;equip del Dr. Estevez, descriu que la falta de la prote\u00efna GlialCAM afecta la localitzaci\u00f3 de la prote\u00efna conexina 43, la qual forma un tipus d\u2019uni\u00f3 molt forta entre astr\u00f2cits, les c\u00e8l\u00b7lules m\u00e9s abundants del sistema nervi\u00f3s i que donen suport a les neurones. Aquestes alteracions afecten l&#8217;organitzaci\u00f3 estructural dels astr\u00f2cits i els acoblaments entre ells, afectant l\u2019equilibri entre excitaci\u00f3 i inhibici\u00f3.<\/p>\n<p>Per altra banda, el grup del Dr. Est\u00e9vez ha liderat un estudi publicat a la revista <a href=\"https:\/\/academic.oup.com\/hmg\/advance-article\/doi\/10.1093\/hmg\/ddab155\/6294512\"><em>Human Molecular Genetics<\/em><\/a> en el qual es descriuen les prote\u00efnes que interaccionen amb GlialCAM. Entre elles s&#8217;han descrit diferents transportadors, canals i\u00f2nics i prote\u00efnes relacionades amb l&#8217;adhesi\u00f3 i la senyalitzaci\u00f3 com els receptors orfes acoblats a prote\u00efnes G: GPR37L1 i GPRC5B. Els investigadors proposen que GlialCAM s&#8217;associa a diverses prote\u00efnes de la membrana cel\u00b7lular per reclutar-les i regular-ne la funci\u00f3, jugant un paper important en la senyalitzaci\u00f3 cel\u00b7lular.<\/p>\n<p>Els dos treballs conjuntament han suggerit que la funci\u00f3 de les prote\u00efnes GlialCAM i MLC1 seria la <strong>d\u2019organitzar xarxes de prote\u00efnes en les unions astrocit\u00e0ries<\/strong>, regulant el desenvolupament i l\u2019activitat neuronal. S\u2019implica a un defecte funcional astrocit\u00e0ri com una causa directa de neuropatologia.<\/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>Dos articles recents amb participaci\u00f3 d\u2019un grup de recerca de l\u2019IDIBELL, la Universitat de Barcelona i el CIBERER descriuen diferents interacciones proteiques de MLC1 i GlialCAM que podrien regular el desenvolupament i l\u2019activitat neuronal.<\/p>\n","protected":false},"author":8,"featured_media":18531,"comment_status":"closed","ping_status":"closed","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":[465,334,464],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-11 15:20:20","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/18530"}],"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=18530"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/18530\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/18531"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=18530"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=18530"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=18530"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}