{"id":9742,"date":"2010-03-11T00:00:00","date_gmt":"2010-03-10T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2010\/03\/11\/un-farmac-per-a-lepilepsia-es-demostra-efectiu-contra-una-greu-malaltia-neurodegenerativa\/"},"modified":"2020-05-13T19:51:10","modified_gmt":"2020-05-13T17:51:10","slug":"un-farmac-per-a-lepilepsia-es-demostra-efectiu-contra-una-greu-malaltia-neurodegenerativa","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2010\/03\/un-farmac-per-a-lepilepsia-es-demostra-efectiu-contra-una-greu-malaltia-neurodegenerativa\/","title":{"rendered":"Un f\u00e0rmac per a l’epil\u00e8psia es demostra efectiu contra una greu malaltia neurodegenerativa"},"content":{"rendered":"

L\u2019adrenoleucodistr\u00f2fia lligada a X \u00e9s una malaltia heredit\u00e0ria que destrueix la mielina (la subst\u00e0ncia blanca que recobreix els nervis) del sistema nervi\u00f3s central o del perif\u00e8ric i produeix alteracions hormonals. La malaltia \u00e9s poc freq\u00fcent i afecta nom\u00e9s individus de sexe mascul\u00ed, tot i que les dones portadores tamb\u00e9 poden manifestar alguns s\u00edmptomes. La seva incid\u00e8ncia \u00e9s d\u2019un cas per cada 17.000 homes. \u00c9s el tipus m\u00e9s freq\u00fcent de leucodistr\u00f2fia i el principal desordre del peroxisoma (part de la c\u00e8l\u00b7lula encarregada d\u2019eliminar productes t\u00f2xics).<\/p>\n

La malaltia es va fer famosa l\u2019any 1992 amb la pel\u00b7l\u00edcula \u2018L\u2019oli de la vida\u2019 (Lorenzo\u2019s oil), protagonitzada per Nick Nolte i Susan Sarandon. <\/p>\n

Acumulaci\u00f3 d\u2019\u00e0cids grassos<\/span><\/p>\n

Els pacients afectats per adrenoleucodistr\u00f2fia lligada a X tenen una mutaci\u00f3 gen\u00e8tica que els impedeix degradar correctament el greix a dins de les c\u00e8l\u00b7lules. Aix\u00f2 provoca l\u2019acumulaci\u00f3 d\u2019\u00e0cids grassos de cadena llarga a la sang i als teixits, especialment al cervell i a la gl\u00e0ndula suprarenal, cosa que causa danys importants.<\/p>\n

La malaltia es manifesta en dues formes: una variant cerebral infantil fulminant que provoca la mort en pocs anys i una variant adulta (coneguda amb el nom d\u2019adrenomieloneuropatia) que progressa m\u00e9s lentament. La forma infantil est\u00e0 caracteritzada per una desmielinitzaci\u00f3 cerebral severa i neuroinflamaci\u00f3, mentre que la forma adulta presenta degeneraci\u00f3 axonal (dels axons, la part de les neurones encarregada de transmetre senyals) sense neuroinflamaci\u00f3 i afecta fonamentalment la medul\u00b7la espinal. En els dos casos l\u2019origen de la malaltia \u00e9s el mateix, i es desconeix per qu\u00e8 es manifesta de forma diferent segons les persones.<\/p>\n

L\u2019adrenoleucodistr\u00f2fia lligada a X est\u00e0 provocada per una mutaci\u00f3 en un gen anomenat ABCD1, implicat en el transport d\u2019\u00e0cids grassos de cadena llarga a dins dels peroxisomes de les c\u00e8l\u00b7lules. En condicions normals, el peroxisoma escur\u00e7a els \u00e0cids grassos de cadena llarga i els prepara perqu\u00e8 la c\u00e8l\u00b7lula els pugui metabolitzar correctament. La mutaci\u00f3 del gen ABCD1 impedeix aquest proc\u00e9s, de forma que els \u00e0cids grassos de cadena llarga s\u2019acumulen en els teixits i la sang i provoquen danys en les c\u00e8l\u00b7lules nervioses.<\/p>\n

L\u2019\u00fanic tractament que existeix actualment \u00e9s el trasplantament de progenitors hematopo\u00e8tics (medul\u00b7la \u00f2ssia) d\u2019un donant compatible, tot i que nom\u00e9s funciona en un nombre limitat de pacients. La majoria d\u2019afectats, especialment els qui pateixen la forma cerebral severa amb adrenomieloneuropatia, no tenen cura.

Esperan\u00e7a<\/span><\/p>\n

La investigaci\u00f3 realitzada pels investigadors de l\u2019IDIBELL obre l\u2019esperan\u00e7a al desenvolupament de tractaments contra la malaltia. L\u2019estudi ha demostrat que l\u2019\u00e0cid valproic activa el gen ABCD2 (funcionalment similar a ABCD1) i aconsegueix corregir l\u2019oxidaci\u00f3 i reduir els nivells d\u2019\u00e0cids grassos de cadena llarga.<\/p>\n

Els investigadors han provat l\u2019efectivitat del f\u00e0rmac en un assaig cl\u00ednic realitzat amb cinc pacients.<\/p>\n

La coordinadora de l\u2019estudi, Aurora Pujol, cap del grup de Malalties Neurometab\u00f2liques de l\u2019IDIBELL, i investigadora ICREA i CIBERER, destaca que \u201cl\u2019\u00e0cid valproic \u00e9s un tractament prometedor contra l\u2019adrenoleucodistr\u00f2fia lligada a X, tot i que encara seran necessaris m\u00e9s estudis abans de la seva aplicaci\u00f3 cl\u00ednica habitual\u201d.<\/p>\n

A m\u00e9s de l\u2019IDIBELL, l\u2019estudi publicat a Human Molecular Genetics ha comptat amb la participaci\u00f3 de diversos centres de recerca europeus (Center for Molecular Medicine de Col\u00f2nia, Alemanya; Institute of Neuropathology d\u2019Erlangen, Alemanya; Institut de Recerca Biom\u00e8dica de Lleida; Universitat de Ghent, B\u00e8lgica; INSERM de Par\u00eds, i Emma\u2019s Children\u2019s Hospital d\u2019Amsterdam).<\/p>\n","protected":false},"excerpt":{"rendered":"

L\u2019adrenoleucodistr\u00f2fia lligada a X \u00e9s una malaltia heredit\u00e0ria que destrueix la mielina (la subst\u00e0ncia blanca que recobreix els nervis) del sistema nervi\u00f3s central o del perif\u00e8ric i produeix alteracions hormonals. La malaltia \u00e9s poc freq\u00fcent i afecta nom\u00e9s individus de sexe mascul\u00ed, tot i que les dones portadores tamb\u00e9 poden manifestar alguns s\u00edmptomes. La seva […]<\/p>\n","protected":false},"author":6,"featured_media":0,"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":[1],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-10 10:53:47","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9742"}],"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=9742"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9742\/revisions"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=9742"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=9742"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=9742"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}