El grupo de Enfermedades Neurometab\u00f3licas de IDIBELL y del Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) liderado por la doctora Aurora Pujol, profesora ICREA, ha descubierto una nueva enfermedad infantil que afecta a la sustancia blanca del cerebro (mielina) que lleva a una discapacidad grave y la muerte en algunos casos.\u00a0<\/p>\n
\u00a0<\/p>\n
El gen que causa la enfermedad se llama DEGS1 y ha sido identificado mediante la secuenciaci\u00f3n del exoma completo (WES) de 19 pacientes a nivel mundial, incluyendo China, Ir\u00e1n, Marruecos, Estados Unidos y Francia. \u201cLa r\u00e1pida recopilaci\u00f3n de casos en esta enfermedad ultrarrara ha sido posible gracias a la colaboraci\u00f3n con los centros de referencia para leucodistrofias de Francia (Dra. Odile Boespflug-Tanguy) y de Baltimore (Dr. Ali Fatemi), as\u00ed como a la plataforma de intercambio de informaci\u00f3n gen\u00f3mica GeneMatcher\u201d, comenta la Dra. Pujol.<\/p>\n
\u00a0<\/p>\n
DEGS1 es un enzima del metabolismo de l\u00edpidos cuya funci\u00f3n es transformar las dihidroceramidas en ceramidas, centro neur\u00e1lgico para el funcionamiento cerebral. De hecho, los defectos en otros enzimas pr\u00f3ximos de la misma v\u00eda causan enfermedades raras similares como la enfermedad de Krabbe o la leucodistrofia metacrom\u00e1tica, que tambi\u00e9n afectan a la mielina.<\/p>\n
\u00a0<\/p>\n
En el laboratorio de la Dra. Cristina Pujades (UPF, Barcelona), los investigadores generaron un modelo de pez cebra deficiente en DEGS1, que present\u00f3 dificultades locomotoras, p\u00e9rdida de c\u00e9lulas formadoras de mielina (oligodendrocitos) y desequilibrios en la v\u00eda de las ceramidas. Estos defectos se corrigieron con fingolimod, un f\u00e1rmaco utilizado para la esclerosis m\u00faltiple que modula esta v\u00eda metab\u00f3lica. \u201cEstos resultados facilitan el camino para su transferencia a ensayos cl\u00ednicos, ilustrando el impacto transformador de la gen\u00f3mica cl\u00ednica y funcional en la secuencia del diagn\u00f3stico al tratamiento\u201d, a\u00f1ade la Dra. Pujol.\u00a0\u00abO dicho de unaltra manera, muestran la importancia de integrar el laboratorio de gen\u00e9tica cl\u00ednica con el funcional para llegar lo antes posible a potenciales soluciones terap\u00e9uticas. En enfermedades neurol\u00f3gicas progresivas es importante optimizar los tempos, la gen\u00f3mica es una herramienta poderosa y coste-efectiva que est\u00e1 mejorando el conocimiento cient\u00edfico y la pr\u00e1ctica cl\u00ednica \u00ab, concluye.<\/p>\n
\u00a0<\/p>\n
La investigaci\u00f3n ha sido publicada en la revista de alto impacto Journal of Clinical Investigation\u00a0y ha sido financiada por La Marat\u00f3 de TV3, el Instituto de Salud Carlos III (FIS), la Fundaci\u00f3n Hesperia, el CIBERER y ELA-Espa\u00f1a.
\u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"
El gen que causa la enfermedad se llama DEGS1 y los defectos que provoca podr\u00edan ser contrarrestados con fingolimod, un f\u00e1rmaco empleado actualmente en el tratamiento de la esclerosis m\u00faltiple<\/p>\n","protected":false},"author":6,"featured_media":10287,"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":[320,278,277],"tags":[],"class_list":["post-10286","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-area-neurociencias","category-enfermedades-neurometabolicas","category-programa-de-neurociencias"],"publishpress_future_action":{"enabled":false,"date":"2024-12-25 20:50:19","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10286","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/comments?post=10286"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10286\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/10287"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=10286"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=10286"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=10286"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}