{"id":133041,"date":"2026-03-30T13:17:29","date_gmt":"2026-03-30T11:17:29","guid":{"rendered":"https:\/\/ibecbarcelona.eu\/an-unprecedented-mutation-map-reveals-how-amylin-mutations-influence-type-2-diabetes\/"},"modified":"2026-03-30T13:31:38","modified_gmt":"2026-03-30T11:31:38","slug":"an-unprecedented-mutation-map-reveals-how-amylin-mutations-influence-type-2-diabetes","status":"publish","type":"post","link":"https:\/\/ibecbarcelona.eu\/ca\/un-mapa-mutacional-sense-precedents-revela-com-les-mutacions-de-l%27amilina-influeixen-en-la-diabetis-tipus-2","title":{"rendered":"Un mapa mutacional sense precedents revela com les mutacions de l&#8217;amilina influeixen en la diabetis tipus 2"},"content":{"rendered":"\n<ul class=\"wp-block-list\">\n<li><strong>Un estudi de l&#8217;Institut de Bioenginyeria de Catalunya (IBEC) crea un atles mutacional de l&#8217;hormona amilina, l&#8217;agregaci\u00f3 de la qual pot danyar les c\u00e8l\u00b7lules pancre\u00e0tiques i desembocar en diabetis tipus 2.<\/strong><\/li>\n\n\n\n<li><strong>L&#8217;equip va analitzar 1.916 variants de la prote\u00efna i va comparar els resultats d&#8217;aquest mapa mutacional amb dades gen\u00e8tiques i cl\u00edniques de 500.000 persones.<\/strong><\/li>\n\n\n\n<li><strong>El treball, publicat a <em>Nature Communications<\/em>, obre noves vies per entendre el paper de la gen\u00e8tica en la diabetis i per dissenyar f\u00e0rmacs m\u00e9s segurs i efica\u00e7os.<\/strong><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"683\" data-src=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/BBolognesi-MBadia_recorte-1024x683.jpg\" alt=\"\" class=\"wp-image-133024 lazyload\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/BBolognesi-MBadia_recorte-1024x683.jpg 1024w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/BBolognesi-MBadia_recorte-300x200.jpg 300w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/BBolognesi-MBadia_recorte-768x512.jpg 768w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/BBolognesi-MBadia_recorte-1536x1024.jpg 1536w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/BBolognesi-MBadia_recorte-2048x1366.jpg 2048w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/BBolognesi-MBadia_recorte-1200x800.jpg 1200w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/BBolognesi-MBadia_recorte-600x400.jpg 600w\" data-sizes=\"(max-width: 1024px) 100vw, 1024px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 1024px; --smush-placeholder-aspect-ratio: 1024\/683;\" \/><figcaption class=\"wp-element-caption\">Benedetta Bolognesi (esquerra) i Marta Badia (dreta) en las instalacions de l&#8217;IBEC.<\/figcaption><\/figure>\n\n\n\n<p>Investigadores de l&#8217;<strong>Institut de Bioenginyeria de Catalunya (IBEC)<\/strong> han elaborat un mapa mutacional sobre com les mutacions de l&#8217;amilina, una hormona clau en la regulaci\u00f3 de la glucosa, afecten la seva tend\u00e8ncia a formar agregats amiloides t\u00f2xics en el p\u00e0ncrees, un proc\u00e9s associat al desenvolupament de la <strong>diabetis tipus 2<\/strong>. Tot i que ja se sabia que algunes mutacions podien modificar aquesta capacitat d&#8217;agregaci\u00f3, el coneixement era fragmentari i es basava en estudis a\u00efllats. <strong><em>&#8220;Per primera vegada, podem mapar sistem\u00e0ticament com milers de mutacions modulen l&#8217;agregaci\u00f3 de l&#8217;amilina, acostant la gen\u00e8tica humana als mecanismes moleculars.&#8221;<\/em><\/strong>, afirma <strong>Benedetta Bolognesi<\/strong>, investigadora principal del grup de <a href=\"https:\/\/ibecbarcelona.eu\/protein-phase-transitions-in-health-and-disease\/\">Transicions de Fase de Prote\u00efnes en la Salut i la Malaltia<\/a> de l&#8217;IBEC i l\u00edder de l&#8217;estudi.<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>Per primera vegada, podem mapar sistem\u00e0ticament com milers de mutacions modulen l&#8217;agregaci\u00f3 de l&#8217;amilina, acostant la gen\u00e8tica humana als mecanismes moleculars.<\/p>\n\n\n\n<p>Benedetta Bolognesi<\/p>\n<\/blockquote>\n\n\n\n<p><strong><em>&#8220;Hem creat un mapa que ens permet avan\u00e7ar-nos al que pot oc\u00f3rrer si aquestes mutacions apareixen a la poblaci\u00f3&#8221;<\/em><\/strong><strong>,<\/strong> afegeix <strong>Marta Badia<\/strong>, investigadora del mateix grup i primera autora de l&#8217;estudi. <strong><em>&#8220;No avaluem toxicitat, sin\u00f3 la propensi\u00f3 intr\u00ednseca de la prote\u00efna a formar fibres. \u00c9s un primer pas, per\u00f2 extremadament necessari&#8221;.<\/em><\/strong><\/p>\n\n\n\n<p>Els agregats amiloides s\u00f3n petits c\u00famuls de prote\u00efna que s&#8217;apiloten de forma an\u00f2mala i acaben danyant els \u00f2rgans i teixits. Els primers amiloides descrits en teixit hum\u00e0, fa m\u00e9s d&#8217;un segle, van ser els agregats d&#8217;amilina -tamb\u00e9 coneguda com a IAPP-. Avui se sap que aquests dip\u00f2sits danyen les c\u00e8l\u00b7lules beta del p\u00e0ncrees i contribueixen al desenvolupament de la diabetis tipus 2, una malaltia que afecta m\u00e9s de 100 milions de persones.<\/p>\n\n\n\n<p>Tot i que l&#8217;amilina \u00e9s molt similar entre mam\u00edfers, petites difer\u00e8ncies en la seva seq\u00fc\u00e8ncia fan que esp\u00e8cies com ratolins o ossos no formin amiloides i no desenvolupin diabetis. De fet, si s&#8217;introdueix la versi\u00f3 humana de la prote\u00efna en un ratol\u00ed, aquest s\u00ed que genera amiloides pancre\u00e0tics i acaba desenvolupant la malaltia.<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p><em>Hem creat un mapa que ens permet avan\u00e7ar-nos al que pot oc\u00f3rrer si aquestes mutacions apareixen a la poblaci\u00f3<\/em>. <em>\u00c9s un primer pas, per\u00f2 extremadament necessari<\/em>.<\/p>\n\n\n\n<p>Marta Badia<\/p>\n<\/blockquote>\n\n\n\n<p>Per comprendre de manera global com la seq\u00fc\u00e8ncia de l&#8217;amilina influeix en la seva agregaci\u00f3, l&#8217;equip de l&#8217;IBEC <strong>va analitzar 1.916 variants de la prote\u00efna<\/strong> utilitzant una t\u00e8cnica anomenada <strong>escaneig mutacional profund<\/strong> (deep mutational scanning). Aquesta metodologia consisteix a generar milers de versions lleugerament diferents d&#8217;una mateixa prote\u00efna i mesurar, totes alhora, com canvia el seu comportament. Es tracta d&#8217;una esp\u00e8cie de &#8220;cribratge massiu&#8221; que permet observar amb gran precisi\u00f3 quines mutacions afavoreixen o dificulten la formaci\u00f3 d&#8217;amiloides. Aquesta estrat\u00e8gia no \u00e9s nova per al grup: ja l&#8217;havien aplicat pr\u00e8viament per mapar tot el paisatge mutacional del p\u00e8ptid A\u03b242, implicat en l&#8217;Alzheimer, i d&#8217;altres prote\u00efnes implicades en la neurodegeneraci\u00f3. Seguint el mateix enfocament, ara han creat un atles complet i exhaustiu de mutacions de l&#8217;amilina.<\/p>\n\n\n\n<p><strong><em>&#8220;La majoria de gent coneix els amiloides per la seva relaci\u00f3 amb l&#8217;Alzheimer i altres malalties neurodegeneratives, per\u00f2 en realitat apareixen en moltes altres condicions. La nostra estrat\u00e8gia aqu\u00ed \u00e9s molt similar a la que fem servir amb A\u03b242: estudiar com les mutacions afecten la formaci\u00f3 d&#8217;amiloides, nom\u00e9s que aquesta vegada l&#8217;apliquem a la diabetis.&#8221;<\/em><\/strong><em>, <\/em>detalla Badia.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong><strong>Quan algunes mutacions acceleren un proc\u00e9s dif\u00edcil de predir<\/strong><\/strong><\/h4>\n\n\n\n<p>Els resultats de l&#8217;estudi revelen que hi ha una regi\u00f3 especialment sensible en la seq\u00fc\u00e8ncia de l&#8217;amilina on la majoria dels canvis impedeixen la formaci\u00f3 de fibres. No obstant aix\u00f2, l&#8217;an\u00e0lisi tamb\u00e9 va detectar <strong>mutacions que acceleren l&#8217;agregaci\u00f3<\/strong>, una cosa dif\u00edcil de predir amb m\u00e8todes cl\u00e0ssics i que podria tenir rellev\u00e0ncia cl\u00ednica, ja que m\u00e9s velocitat d&#8217;agregaci\u00f3 podria influir en l&#8217;aparici\u00f3 primerenca del dany pancre\u00e0tic.<\/p>\n\n\n\n<p>Per avaluar la possible import\u00e0ncia en humans, l&#8217;equip va comparar els resultats del seu mapa mutacional amb dades gen\u00e8tiques i cl\u00edniques de <strong>500.000 persones<\/strong> recollides a l&#8217;UK Biobank. Tot i que la mostra continua sent limitada, van observar que les variants que <strong>disminueixen<\/strong> l&#8217;agregaci\u00f3 apareixen m\u00e9s en persones sense diabetis. Badia matisa: <strong><em>&#8220;Tot i aix\u00f2, \u00e9s important deixar clar que la diabetis \u00e9s multifactorial i aquestes mutacions s\u00f3n nom\u00e9s una pe\u00e7a del puzle&#8221;.<\/em><\/strong><\/p>\n\n\n\n<p>L&#8217;estudi tamb\u00e9 integra informaci\u00f3 evolutiva comparant l&#8217;amilina humana amb la de diferents esp\u00e8cies. Les seq\u00fc\u00e8ncies d&#8217;animals com el ratol\u00ed o l\u2019os polar \u2014que no desenvolupen diabetis malgrat dietes extremes o hibernaci\u00f3 prolongada\u2014 s\u00f3n <strong>intr\u00ednsecament menys amiloidog\u00e8niques<\/strong>, un fet conegut que el nou atles reprodueix amb gran precisi\u00f3. <strong>&#8220;<em>Aquests animals tenen exactament els canvis necessaris perqu\u00e8 la prote\u00efna no formi fibres. Saber quines tecles tocar \u00e9s clau per a dissenyar nous f\u00e0rmacs&#8221;<\/em><\/strong>, explica Bolognesi.<\/p>\n\n\n\n<p>A m\u00e9s de millorar la comprensi\u00f3 dels mecanismes d&#8217;agregaci\u00f3, l&#8217;atles mutacional obre noves oportunitats terap\u00e8utiques. L&#8217;estudi permet identificar mutacions que redueixen l&#8217;agregaci\u00f3, proporciona una base racional per dissenyar nous an\u00e0legs d&#8217;amilina i ajuda a anticipar l&#8217;impacte de variants gen\u00e8tiques que puguin apar\u00e8ixer en la poblaci\u00f3 a mesura que la seq\u00fcenciaci\u00f3 gen\u00e8tica es generalitzi.<\/p>\n\n\n\n<p><strong><em>&#8220;El nostre objectiu \u00e9s que aquest mapa sigui una eina per a la comunitat cient\u00edfica i cl\u00ednica.&#8221;<\/em><\/strong>, conclou Bolognesi.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><strong><strong>Article de refer\u00e8ncia<\/strong><\/strong><\/p>\n\n\n\n<p>Marta Badia, Cristina Batlle, Benedetta Bolognesi.<strong> Massively parallel quantification of mutational impact on IAPP amyloid formation. <\/strong><em>Nature Communications<\/em> (2026). DOI: <a href=\"https:\/\/doi.org\/10.1038\/s41467-026-70611-z\">https:\/\/doi.org\/10.1038\/s41467-026-70611-z<\/a><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"1024\" data-src=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/S-WEB-Goal-03-1024x1024.png\" alt=\"\" class=\"wp-image-133028 lazyload\" style=\"--smush-placeholder-width: 1024px; --smush-placeholder-aspect-ratio: 1024\/1024;width:150px\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/S-WEB-Goal-03-1024x1024.png 1024w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/S-WEB-Goal-03-300x300.png 300w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/S-WEB-Goal-03-150x150.png 150w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/S-WEB-Goal-03-768x768.png 768w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/S-WEB-Goal-03-1200x1200.png 1200w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/S-WEB-Goal-03-600x600.png 600w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2026\/03\/S-WEB-Goal-03.png 1500w\" data-sizes=\"(max-width: 1024px) 100vw, 1024px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" \/><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>Un estudi de l&#8217;Institut de Bioenginyeria de Catalunya (IBEC) crea un atles mutacional de l&#8217;hormona amilina, l&#8217;agregaci\u00f3 de la qual pot danyar les c\u00e8l\u00b7lules pancre\u00e0tiques i desembocar en diabetis tipus 2. L&#8217;equip va analitzar 1.916 variants de la prote\u00efna i va comparar els resultats d&#8217;aquest mapa mutacional amb dades gen\u00e8tiques i cl\u00edniques de 500.000 persones. El treball, publicat a Nature Communications, obre noves vies per entendre el paper de la gen\u00e8tica en la diabetis i per dissenyar f\u00e0rmacs m\u00e9s segurs i efica\u00e7os.<\/p>\n","protected":false},"author":37,"featured_media":133025,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[96],"tags":[1107,1838,1871,1601],"post_formats":[],"class_list":["post-133041","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticies-de-recerca","tag-benedetta-bolognesi-ca","tag-diabetis","tag-mutacions-genetiques","tag-protein-phase-transitions-in-health-and-disease"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Un mapa mutacional sense precedents revela com les mutacions de l&#039;amilina influeixen en la diabetis tipus 2 - Institute for Bioengineering of Catalonia<\/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:\/\/ibecbarcelona.eu\/ca\/un-mapa-mutacional-sense-precedents-revela-com-les-mutacions-de-l'amilina-influeixen-en-la-diabetis-tipus-2\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Un mapa mutacional sense precedents revela com les mutacions de l&#039;amilina influeixen en la diabetis tipus 2 - Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"og:description\" content=\"Un estudi de l&#039;Institut de Bioenginyeria de Catalunya (IBEC) crea un atles mutacional de l&#039;hormona amilina, l&#039;agregaci\u00f3 de la qual pot danyar les c\u00e8l\u00b7lules pancre\u00e0tiques i desembocar en diabetis tipus 2. L&#039;equip va analitzar 1.916 variants de la prote\u00efna i va comparar els resultats d&#039;aquest mapa mutacional amb dades gen\u00e8tiques i cl\u00edniques de 500.000 persones. 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