{"id":8222,"date":"2023-04-20T07:47:29","date_gmt":"2023-04-20T05:47:29","guid":{"rendered":"https:\/\/www.iqac.csic.es\/un-estudi-amb-participacio-del-csic-revela-lestructura-de-la-proteina-responsable-de-la-malaltia-de-huntington\/"},"modified":"2026-06-16T10:47:15","modified_gmt":"2026-06-16T08:47:15","slug":"un-estudi-amb-participacio-del-csic-revela-lestructura-de-la-proteina-responsable-de-la-malaltia-de-huntington","status":"publish","type":"post","link":"https:\/\/www.iqac.csic.es\/ca\/un-estudi-amb-participacio-del-csic-revela-lestructura-de-la-proteina-responsable-de-la-malaltia-de-huntington\/","title":{"rendered":"Un estudi amb participaci\u00f3 del CSIC revela l\u2019estructura de la prote\u00efna responsable de la malaltia de Huntington"},"content":{"rendered":"<p>Un equip amb participaci\u00f3 d\u2019investigadors de l\u2019<a href=\"https:\/\/www.iqac.csic.es\/\" target=\"_blank\" rel=\"noopener\">Institut de Qu\u00edmica Avan\u00e7ada de Catalunya (IQAC)<\/a> del <a href=\"https:\/\/www.csic.es\/es\" target=\"_blank\" rel=\"noopener\">Consell Superior d\u2019Investigacions Cient\u00edfiques (CSIC)<\/a> ha revelat l\u2019estructura de la prote\u00efna responsable de la malaltia de Huntington, una patologia neurodegenerativa greu que es caracteritza pel trastorn progressiu del moviment i la funci\u00f3 cognitiva. Els resultats del treball, <a href=\"https:\/\/www.nature.com\/articles\/s41594-023-00920-0\" target=\"_blank\" rel=\"noopener\">publicat en la revista <em>Nature Structural and Molecular Biology<\/em><\/a>, aplanen el cam\u00ed cap a una millor comprensi\u00f3 de la malaltia, donat que aporta noves dades clau sobre el mecanisme que desencadena la formaci\u00f3 d\u2019agregats proteics en el cervell d\u2019aquests pacients.<\/p>\n<p>La malaltia de Huntington es desencadena per una mutaci\u00f3 gen\u00e8tica que afecta la prote\u00efna huntingtina. Aquest defecte \u00e9s degut a l\u2019expansi\u00f3 dels nucle\u00f2tids citosina, adenina i guanina, encarregats de codificar en l\u2019ADN la s\u00edntesi de la glutamina, un dels 20 amino\u00e0cids que intervenen en la composici\u00f3 de les prote\u00efnes. Com a resultat, s\u2019incrementa el nombre de glutamines en la prote\u00efna, fet que est\u00e0 directament relacionat amb la formaci\u00f3 d\u2019agregats proteics en el cervell.<\/p>\n<p>Tot i que es desconeix la funci\u00f3 de la prote\u00efna huntingtina, fins ara se sap que est\u00e0 implicada en el desenvolupament neurol\u00f2gic i que \u00e9s necessari un nombre m\u00ednim de mol\u00e8cules de l\u2019amino\u00e0cid glutamina per a aquest desenvolupament. Hi ha, per\u00f2, un llindar de repeticions de glutamines en la prote\u00efna huntingtina a partir del qual una persona desenvolupa la malaltia. La poblaci\u00f3 sana t\u00e9 entre 17 i 23 glutamines consecutives, per\u00f2 per sobre de 36 es desenvolupen els s\u00edmptomes de la malaltia.<\/p>\n<p>La malaltia, considerada rara, afecta aproximadament a un de cada 10.000 habitants en la majoria dels pa\u00efsos europeus, encara que tamb\u00e9 existeix en la resta del m\u00f3n en diferents proporcions. A Espanya s\u2019estima que m\u00e9s de 4.000 persones la pateixen, segons l\u2019Associaci\u00f3 Espanyola Corea de Huntington.<\/p>\n<h4>Una nova perspectiva<\/h4>\n<blockquote><p>\u201cSi b\u00e9 encara no estan establertes les bases de la malaltia, es creu que aquestes repeticions addicionals de glutamines fan que les prote\u00efnes interaccionin entre s\u00ed i es faciliti la formaci\u00f3 de precipitats i ac\u00famuls proteics, que tenen com a resultat la degeneraci\u00f3 neuronal i s\u00edmptomes com la p\u00e8rdua de coordinaci\u00f3 i la dem\u00e8ncia\u201d, detalla <strong>Ramon Crehuet<\/strong>, investigador del CSIC en l\u2019IQAC i un dels signants del treball liderat per <strong>Pau Bernard\u00f3<\/strong>, del <a href=\"https:\/\/www.cbs.cnrs.fr\/index.php\/fr\/\" target=\"_blank\" rel=\"noopener\">Centre de Biologie Structurale de Montpellier<\/a> (Fran\u00e7a). I afegeix: \u201cSe sap que la prote\u00efna amb un determinat nombre de glutamines fa m\u00e9s probable l\u2019aparici\u00f3 de la malaltia, per\u00f2 seguim sense entendre del tot perqu\u00e8 l\u2019estructura de la prote\u00efna canvia i es torna m\u00e9s t\u00f2xica\u201d.<\/p><\/blockquote>\n<p>Ara, els resultats d\u2019aquesta recerca revelen que no hi ha cap canvi qualitatiu entre l\u2019estructura de la huntingtina amb un nombre patol\u00f2gic de repeticions de glutamina i la huntingtina de persones sanes. Nom\u00e9s hi ha canvis graduals que s\u2019incrementen a mesura que augmenta el nombre de glutamines. \u201cEls nostres resultats aporten una nova perspectiva del llindar patol\u00f2gic de la malaltia que va m\u00e9s enll\u00e0 de la longitud de la cadena de repeticions de glutamines. Con\u00e8ixer l\u2019estructura de la prote\u00efna i el mecanisme de la seva agregaci\u00f3 pot ser el primer pas per a dissenyar f\u00e0rmacs que ajudin a pal\u00b7liar els s\u00edmptomes i millorar la vida dels pacients\u201d, ressalta l\u2019investigador del CSIC.<\/p>\n<p>L\u2019estudi de l\u2019estructura de les prote\u00efnes poden obrir noves possibilitats per a una millor comprensi\u00f3 de les malalties per expansi\u00f3 de tres nucle\u00f2tids, entre les quals, a m\u00e9s de la malaltia de Huntington, es troben la malaltia de Kennedy, la distr\u00f2fia miot\u00f2nica o el S\u00edndrome X fr\u00e0gil.<\/p>\n<p style=\"font-size: 75%;\">Carlos A. Elena-Real, Amin Sagar, Annika Urbanek, Matija Popovic, Anna Morat\u00f3, Alejandro Esta\u00f1a, Aur\u00e9lie Fournet, Christine Doucet, Xamuel L. Lund, Zhen-Dan Shi, Luca Costa, Aur\u00e9lien Thureau, Fr\u00e9d\u00e9ric Allemand, Rolf E. Swenson, Pierre-Emmanuel Milhiet, Ramon Crehuet, Alessandro Barducci, Juan Cort\u00e9s, Davy Sinnaeve, Nathalie Sibille and Pau Bernad\u00f3. <strong>The structure of pathogenic huntingtin exon1 defines the bases of its aggregation propensity<\/strong>. <em>Nature Structural &amp; Molecular Biology<\/em>. DOI: <a href=\"https:\/\/www.nature.com\/articles\/s41594-023-00920-0\" target=\"_blank\" rel=\"noopener\">10.1038\/s41594-023-00920-0<\/a><\/p>\n<p style=\"text-align: right;\"><strong>IQAC-CSIC Comunicaci\u00f3<\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un equip amb participaci\u00f3 d\u2019investigadors de l\u2019Institut de Qu\u00edmica Avan\u00e7ada de Catalunya (IQAC) del Consell Superior d\u2019Investigacions Cient\u00edfiques (CSIC) ha revelat l\u2019estructura de la prote\u00efna responsable de la malaltia de Huntington, una patologia neurodegenerativa greu que es caracteritza pel trastorn progressiu del moviment i la funci\u00f3 cognitiva. Els resultats del treball, publicat en la revista<a class=\"more-link\" href=\"https:\/\/www.iqac.csic.es\/ca\/un-estudi-amb-participacio-del-csic-revela-lestructura-de-la-proteina-responsable-de-la-malaltia-de-huntington\/\">Continue reading <span class=\"screen-reader-text\">\u00abUn estudi amb participaci\u00f3 del CSIC revela l\u2019estructura de la prote\u00efna responsable de la malaltia de Huntington\u00bb<\/span><\/a><\/p>\n","protected":false},"author":3,"featured_media":4394,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[73],"tags":[],"class_list":["post-8222","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","entry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Un estudi amb participaci\u00f3 del CSIC revela l\u2019estructura de la prote\u00efna responsable de la malaltia de Huntington | IQAC - Institut de Qu\u00edmica Avan\u00e7ada de Catalunya - CSIC<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.iqac.csic.es\/un-estudio-con-participacion-del-csic-revela-la-estructura-de-la-proteina-responsable-de-la-enfermedad-de-huntington\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Un estudi amb participaci\u00f3 del CSIC revela l\u2019estructura de la prote\u00efna responsable de la malaltia de Huntington | IQAC - Institut de Qu\u00edmica Avan\u00e7ada de Catalunya - CSIC\" \/>\n<meta property=\"og:description\" content=\"Un equip amb participaci\u00f3 d\u2019investigadors de l\u2019Institut de Qu\u00edmica Avan\u00e7ada de Catalunya (IQAC) del Consell Superior d\u2019Investigacions Cient\u00edfiques (CSIC) ha revelat l\u2019estructura de la prote\u00efna responsable de la malaltia de Huntington, una patologia neurodegenerativa greu que es caracteritza pel trastorn progressiu del moviment i la funci\u00f3 cognitiva. 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