Investigadors de l’Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), liderats per la Dra. Montse Oliv\u00e9, publiquen a Nature Communications la descripci\u00f3 d’una nova malaltia muscular, la mioglobinopatia, causada per una mutaci\u00f3 en el gen de la mioglobina. El descobriment ha estat possible gr\u00e0cies a la col\u00b7laboraci\u00f3 amb un equip de genetistes de la Universitat Occidental d’Austr\u00e0lia (UWA), liderats pel professor Nigel Laing, \u00a0i investigadors de l’Institut Karolinska (Estocolm, Su\u00e8cia).<\/p>\n
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La mioglobina, la prote\u00efna responsable del color vermell dels m\u00fasculs, t\u00e9 com a funci\u00f3 principal el transport i l’emmagatzematge intracel\u00b7lular d’oxigen, actuant com a reservori d’oxigen quan se\u2019n donen nivells baixos (hip\u00f2xia) o una manca total (an\u00f2xia). Tamb\u00e9 participa en la captaci\u00f3 i eliminaci\u00f3 de radicals lliures i altres esp\u00e8cies reactives d’oxigen, evitant el dany cel\u00b7lular per estr\u00e8s oxidatiu.\u00a0<\/p>\n
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“\u00c9s la primera vegada que s’identifica una malaltia causada per una mutaci\u00f3 del gen de la mioglobina”, afirma Montse Oliv\u00e9, metge de l’Hospital Universitari de Bellvitge, responsable de l’\u00e0rea de malalties musculars i investigadora del grup de gen\u00e8tica molecular humana de l’IDIBELL i membre del programa Gens, Malatia i Terapia. “Hem identificat la mateixa mutaci\u00f3 en diversos membres de 6 fam\u00edlies europees sense parentesc entre elles. Tots ells presentaven la mateixa simptomatologia i unes lesions molt caracter\u00edstiques – anomenades cossos sarcopl\u00e0smics – a les bi\u00f2psies musculars, afegeix la Dra. Oliv\u00e9”.<\/p>\n
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La mioglobinopatia, nom que s’ha proposat per la nova malaltia, es manifesta entre la quarta i cinquena d\u00e8cada de la vida. Provoca una p\u00e8rdua de for\u00e7a progressiva en la musculatura axial i de les extremitats, i en etapes m\u00e9s avan\u00e7ades afecta a la musculatura respirat\u00f2ria i el cor.<\/p>\n
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En l\u2019estudi tamb\u00e9 han participat, entre d\u2019altres, investigadors del sincrotr\u00f3 ALBA i la Universitat Aut\u00f2noma de Barcelona (UAB). La microsc\u00f2pia d’infraroig de la l\u00ednia de llum MIRAS del sincrotr\u00f3, que permet caracteritzar la composici\u00f3 qu\u00edmica i l’estructura de prote\u00efnes, ha perm\u00e8s demostrar la pres\u00e8ncia de l\u00edpids oxidats en les c\u00e8l\u00b7lules musculars afectades. “Hem observat que els cossos sarcopl\u00e0smics corresponen a l\u00edpids oxidats i a prote\u00efnes mal plegades”, comenta N\u00faria Benseny, investigadora postdoctoral al sincrotr\u00f3 ALBA.<\/p>\n
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Finalment, investigadors de les universitats de M\u00f2dena i Viena han demostrat una alteraci\u00f3 en les propietats bioqu\u00edmiques i termodin\u00e0miques de la mioglobina mutada, incloent una alteraci\u00f3 en la capacitat d’uni\u00f3 a l’oxigen que contribueix a la formaci\u00f3 dels agregats de l\u00edpids i prote\u00efnes que es troben en els m\u00fasculs dels pacients.<\/p>\n
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Aquest nou descobriment ha perm\u00e8s establir el diagn\u00f2stic en els pacients despr\u00e9s de molts anys, i permetr\u00e0 focalitzar els esfor\u00e7os a l’hora de trobar una cura per aquesta malaltia.
\u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"
Una col\u00b7laboraci\u00f3 internacional encap\u00e7alada per l\u2019IDIBELL identifica la primera malaltia causada per una mutaci\u00f3 en la mioglobina<\/p>\n","protected":false},"author":6,"featured_media":7494,"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":[334],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-08 21:05:14","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7493"}],"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=7493"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7493\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/7494"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=7493"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=7493"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=7493"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}