La malaltia de Charcot-Marie-Tooth \u00e9s un dels desordres neurol\u00f2gics hereditaris m\u00e9s freq\u00fcents, que afecta una de cada 2.500 persones. L’afecci\u00f3, que pren el nom dels tres metges que la van descriure, afecta els nervis perif\u00e8rics i provoca defici\u00e8ncies motores i sensorials. La gravetat dels s\u00edmptomes \u00e9s molt variable i la seva progressi\u00f3 \u00e9s gradual. La malaltia es presenta en dues variants: la forma desmielinitzant, que provoca una disminuci\u00f3 de la velocitat de transmissi\u00f3 de senyals en els nervis afectats, i la forma axonal. Fins fa molt poc, aquesta darrera forma cl\u00ednica no tenia un diagn\u00f2stic clar. <\/p>\n
Mutacions en el gen MFN2 Els investigadors han estudiat 85 fam\u00edlies sospitoses de patir la variant axonal de la malaltia de Charcot-Marie-Tooth, ateses a l\u2019Hospital Universitari de Bellvitge entre els anys 1994 i 2007. Els autors de l\u2019estudi han identificat nou mutacions diferents del gen MFN2 en vint-i-quatre pacients de 14 fam\u00edlies afectades. Quatre d\u2019aquestes mutacions no havien estat descrites anteriorment.<\/p>\n El coordinador del treball, responsable del laboratori de Diagn\u00f2stic Gen\u00e8tic Molecular i investigador de l\u2019IDIBELL, V\u00edctor Volpini, destaca \u201cla col\u00b7laboraci\u00f3 entre equips de recerca b\u00e0sica i cl\u00ednica en l\u2019estudi\u201d que, segons afirma, \u201csuposar\u00e0 una millora considerable en el diagn\u00f2stic de les persones afectades i, per tant, en el consell gen\u00e8tic\u201d.<\/p>\n Aquest \u00e9s el primer estudi de poblaci\u00f3 realitzat a Espanya sobre la incid\u00e8ncia de les mutacions en el gen MFN2 en afectats per la variant axonal de la malaltia de Charcot-Marie-Tooth.<\/p>\n A m\u00e9s d\u2019investigadors de l\u2019IDIBELL, en l\u2019estudi tamb\u00e9 han participat investigadors de l\u2019hospital universitari d\u2019Angers (Fran\u00e7a).<\/p>\n Refer\u00e8ncia de l\u2019article<\/strong><\/p>\n Casasnovas C*, Banchs I*, Cassereau J, Gueguen N, Chevrollier A, Mart\u00ednez-Matos JA*, Bonneau D, Volpini V*. J Med Genet. 2010 Apr;47(4):249-56.<\/p>\n *Investigadors IDIBELL<\/p>\n","protected":false},"excerpt":{"rendered":" Mutacions en el gen MFN2 Refer\u00e8ncia de l\u2019article<\/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-9732","post","type-post","status-publish","format-standard","hentry","category-sin-categorizar"],"publishpress_future_action":{"enabled":false,"date":"2024-11-29 22:06:46","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\/9732","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=9732"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9732\/revisions"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=9732"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=9732"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=9732"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
<\/strong>
L\u2019estudi coordinat per investigadors de l\u2019IDIBELL ha comprovat que, a l\u2019Estat espanyol, la causa m\u00e9s freq\u00fcent de la variant axonal de la malaltia s\u00f3n mutacions en el gen MFN2. Aquest gen \u00e9s responsable de la producci\u00f3 d\u2019una prote\u00efna anomenada mitofusina 2, que permet la fusi\u00f3 de les mitoc\u00f2ndries, els elements de la c\u00e8l\u00b7lula responsables de produir energia. Estudis realitzats en altres pa\u00efsos han detectat una incid\u00e8ncia molt variable de la mutaci\u00f3 de MFN2 entre les persones afectades per la variant axonal de la malaltia.<\/p>\n