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. 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-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":[1],"tags":[],"class_list":["post-9742","post","type-post","status-publish","format-standard","hentry","category-sin-categorizar"],"publishpress_future_action":{"enabled":false,"date":"2024-11-30 02:44:07","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9742","targetHints":{"allow":["GET"]}}],"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}]}}
Esperan\u00e7a<\/span><\/p>\n