{"id":23489,"date":"2023-04-05T09:05:31","date_gmt":"2023-04-05T07:05:31","guid":{"rendered":"https:\/\/idibell.cat\/?p=23489"},"modified":"2023-09-29T09:57:53","modified_gmt":"2023-09-29T07:57:53","slug":"un-nou-estudi-identifica-el-paper-essencial-dun-enzim-lipidic-per-a-la-integritat-de-les-membranes-associades-als-mitocondris","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2023\/04\/un-nou-estudi-identifica-el-paper-essencial-dun-enzim-lipidic-per-a-la-integritat-de-les-membranes-associades-als-mitocondris\/","title":{"rendered":"Un nou estudi identifica el paper essencial d&#8217;un enzim lip\u00eddic per a la integritat de les membranes associades als mitocondris"},"content":{"rendered":"<p>El 2019, utilitzant la tecnologia de seq\u00fcenciaci\u00f3 del genoma, el <a href=\"https:\/\/idibell.cat\/recerca\/area-de-neurociencies\/programa-de-neurociencies\/malalties-neurometaboliques\/\">grup de recerca de Malalties Neurometab\u00f2liques<\/a>, liderat per la Dra. Aurora Pujol, professora d\u2019investigaci\u00f3 ICREA de l&#8217;Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) i del Centre de Recerca Biom\u00e8dica en Xarxa de Malalties Rares (CIBERER) va descobrir que el mal funcionament de l&#8217;enzim lip\u00eddic DEGS1 \u00e9s la causa gen\u00e8tica d&#8217;una nova malaltia, la leucodistr\u00f2fia hipomielinitzant-18 (HLD18, OMIM #618404).<\/p>\n<p>Aquesta \u00e9s una malaltia ultra rara de la subst\u00e0ncia blanca del cervell, una leucodistr\u00f2fia, que afecta els nens des dels primers mesos de vida. Aquests pacients tenen problemes motors i cognitius molt greus, molts no poden caminar o mai han apr\u00e8s a parlar, alguns tamb\u00e9 tenen problemes d&#8217;alimentaci\u00f3 i epil\u00e8psia. La majoria dels pacients moren aviat. Fins ara, els investigadors han identificat nom\u00e9s 36 pacients al m\u00f3n amb aquesta malaltia, 7 dels quals lamentablement ja havien mort. En aquest sentit, l&#8217;\u00fas de la plataforma GeneMatcher, que reuneix cl\u00ednics, genetistes i investigadors de tot el m\u00f3n interessats a estudiar nous gens i malalties, i les col\u00b7laboracions ja establertes a trav\u00e9s del CIBERER, com la col\u00b7laboraci\u00f3 amb la Dra. \u00c0ngels Garc\u00eda-Cazorla de l&#8217;Hospital Infantil Sant Joan de D\u00e9u, han estat crucials.<\/p>\n<p>Ara, els investigadors han aplicat estudis funcionals en mostres de pacients i models de ratol\u00ed de la malaltia, publicats a <a href=\"https:\/\/www.jci.org\/articles\/view\/162957\" target=\"_blank\" rel=\"noopener\">The Journal of Clinical Investigation<\/a>, on descriuen informaci\u00f3 important sobre la comprensi\u00f3 de la malaltia HLD18, que pot tenir implicacions en el seu maneig i altres malalties causades pel desequilibri de l\u00edpids.<\/p>\n<p>Mitjan\u00e7ant l&#8217;aplicaci\u00f3 de microsc\u00f2pia sofisticada a l&#8217;ICFO, en col\u00b7laboraci\u00f3 amb el Dr. Pablo Loza-\u00c1lvarez i la Dra. Mar\u00eda Marsal, els investigadors van poder demostrar que DEGS1 est\u00e0 ubicat a la membrana del reticle endopl\u00e0smic associat als mitocondris (MAM), una regi\u00f3 de la membrana del reticle endopl\u00e0smic que est\u00e0 unida de forma reversible als mitocondris. Aquest descobriment pot tenir una rellevant implicaci\u00f3 funcional, ja que els mitocondris i MAM apareixen f\u00edsicament alterats.<\/p>\n<blockquote><p>Segons Laura Planas Serra, investigadora predoctoral de l&#8217;IDIBELL i primera autora de l&#8217;estudi: &#8220;Aquesta investigaci\u00f3 tamb\u00e9 exemplifica com les malalties monog\u00e8niques rares poden ajudar a dilucidar funcions metab\u00f2liques cel\u00b7lulars fonamentals, i tamb\u00e9 obre la porta per abordar trastorns m\u00e9s complexos, at\u00e8s el paper emergent de DEGS1 en la diabetis tipus 2 i en malalties cardiovasculars&#8221;.<\/p><\/blockquote>\n<p>Els investigadors tamb\u00e9 s&#8217;han embarcat en una campanya de captaci\u00f3 de fons per poder tractar els pacients amb HLD18 amb Fingolimod (de Novartis), un f\u00e0rmac comercialitzat des del 2010 per al tractament de l&#8217;Esclerosi M\u00faltiple. Tenen al voltant de 9 pacients de tot el m\u00f3n (Espanya, \u00cdndia, Egipte i els Estats Units) que estan interessats a inscriure&#8217;s al seu estudi pilot, per\u00f2 no els poden tractar, ja que no poden pagar l&#8217;alt cost del medicament. Actualment, aquest estudi pilot \u00e9s la seva \u00fanica opci\u00f3 terap\u00e8utica. Els investigadors estan tractant 2 pacients (l&#8217;hospital i la fam\u00edlia han cobert els costos, respectivament) i tenen resultats molt encoratjadors. M\u00e9s informaci\u00f3 i donacions aqu\u00ed: <a href=\"https:\/\/gofund.me\/a7487cab\">https:\/\/gofund.me\/a7487cab<\/a><\/p>\n<p>El projecte ha estat un esfor\u00e7 de col\u00b7laboraci\u00f3 entre l&#8217;Hospital de Nens Sant Joan de D\u00e9u, l&#8217;H\u00f4pital Armand-Trousseau, l&#8217;Institut de Ci\u00e8ncies Fot\u00f2niques (ICFO), l&#8217;Institut de Recerca Biomedica de Lleida i el Centre M\u00e8dic de la Universitat de Columbia. A m\u00e9s, no hauria estat possible sense les ag\u00e8ncies finan\u00e7adores, especialment la Fundaci\u00f3 &#8216;La Marat\u00f3 de TV3&#8217;, l&#8217;Institut de Salut Carles III, el programa URDCat, la Fundaci\u00f3 Hesperia i la Secretaria d&#8217;Universitats i Recerca del Ministeri d&#8217;Empresa i Coneixement de la Generalitat de Catalunya.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Els resultats mostren el paper fonamental d&#8217;aquest enzim anomenat DEGS1 en la regulaci\u00f3 de la membrana del reticle endopl\u00e0smic associada als mitocondris (MAM), una regi\u00f3 de la membrana del reticle endopl\u00e0smic que est\u00e0 unida de forma reversible als mitocondris.<\/p>\n","protected":false},"author":8,"featured_media":23490,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"default","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":"set","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":"2024-05-11 11:48:10","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/23489"}],"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=23489"}],"version-history":[{"count":5,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/23489\/revisions"}],"predecessor-version":[{"id":23501,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/23489\/revisions\/23501"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/23490"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=23489"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=23489"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=23489"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}