El grup de Malalties Neurometab\u00f2liques de IDIBELL i del Centre d’Investigaci\u00f3 Biom\u00e8dica en Xarxa de Malaties Rares (CIBERER) liderat per la doctora Aurora Pujol, professora ICREA, ha descobert una nova malaltia infantil que afecta la subst\u00e0ncia blanca del cervell (mielina) donant lloc a una discapacitat greu i la mort en alguns casos.<\/p>\n
\u00a0<\/p>\n
El gen que causa la malaltia es diu DEGS1 i ha estat identificat mitjan\u00e7ant la seq\u00fcenciaci\u00f3 de l\u2019exoma complet (WES) de 19 pacients a nivell mundial, incloent la Xina, l’Iran, el Marroc, Estats Units i Fran\u00e7a. “La r\u00e0pida recopilaci\u00f3 de casos d\u2019aquesta malaltia ultrarara ha estat possible gr\u00e0cies a la col\u00b7laboraci\u00f3 amb els centres de refer\u00e8ncia per a leucodistr\u00f2fies de Fran\u00e7a (Dra. Odile Boespflug-Tanguy) i de Baltimore (Dr. Ali Fatemi), aix\u00ed com a la plataforma d\u2019intercanvi d’informaci\u00f3 gen\u00f2mica GeneMatcher\u201d, comenta la Dra. Pujol.<\/p>\n
\u00a0<\/p>\n
DEGS1 \u00e9s un enzim del metabolisme de l\u00edpids encarregat de transformar dihidroceramides en ceramides en un centre neur\u00e0lgic per al funcionament cerebral. De fet, els defectes en altres enzims propers de la mateixa via provoquen altres malalties rares com la malaltia de Krabbe o la leucodistr\u00f2fia metacrom\u00e0tica, que tamb\u00e9 afecten la mielina.<\/p>\n
\u00a0<\/p>\n
Al laboratori de la Dra. Cristina Pujades (UPF, Barcelona), els investigadors van generar un model de peix zebra deficient en DEGS1, que va presentar dificultats locomotores, p\u00e8rdua de c\u00e8l\u00b7lules formadores de mielina (oligodendr\u00f2cits) i desequilibris en la via de les ceramides. Aquests defectes es van corregir amb fingolimod, un f\u00e0rmac emprat per l’esclerosi m\u00faltiple que modula aquesta via metab\u00f2lica. “Aquests resultats faciliten el cam\u00ed per a la seva transfer\u00e8ncia a assajos cl\u00ednics, il\u00b7lustrant l’impacte transformador de la gen\u00f2mica cl\u00ednica i funcional en la seq\u00fc\u00e8ncia del diagn\u00f2stic al tractament”, afegeix la Dra. Pujol. “O dit d\u2019unaltra manera, mostren la importancia d\u2019integrar el laboratori de gen\u00e9tica cl\u00ednica amb el funcional per arrivar com abans millor a potencials sol.lucions terap\u00e8utiques. En malalties neurol\u00f2giques progressives \u00e9s important optimitzar els tempos; la gen\u00f2mica \u00e9s una eina poderosa i cost-efectiva que est\u00e0 millorant el coneixement cientific i la pr\u00e0ctica cl\u00ednica\u201d, conclou.<\/p>\n
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La investigaci\u00f3 ha estat publicada a la revista d’alt impacte Journal of Clinical Investigation i ha estat finan\u00e7ada per La Marat\u00f3 de TV3, l’Institut de Salut Carlos III (FIS), la Fundaci\u00f3 Hesperia, el CIBER de Malalties Rares (CIBERER) i ELA-Espanya. La Dra Pujol lidera la unitat CIBERER O-759.<\/p>\n
\u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"
El gen que causa la malaltia es diu DEGS1 i els defectes que provoca podrien \u00e9sser contrarestats amb fingolimod, un f\u00e0rmac emprat actualment en el tractament de l\u2019esclerosi m\u00faltiple<\/p>\n","protected":false},"author":6,"featured_media":10515,"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-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],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-12 10:09:12","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7525"}],"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=7525"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7525\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10515"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=7525"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=7525"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=7525"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}