{"id":68367,"date":"2019-09-23T11:10:13","date_gmt":"2019-09-23T09:10:13","guid":{"rendered":"http:\/\/ibecbarcelona.eu\/?p=68367"},"modified":"2020-06-15T11:33:59","modified_gmt":"2020-06-15T09:33:59","slug":"investigadors-duen-a-terme-milers-de-mutacions-per-comprendre-millor-lesclerosi-lateral-amiotrofica","status":"publish","type":"post","link":"https:\/\/ibecbarcelona.eu\/ca\/investigadors-duen-a-terme-milers-de-mutacions-per-comprendre-millor-lesclerosi-lateral-amiotrofica\/","title":{"rendered":"Investigadors duen a terme milers de mutacions per comprendre millor l’esclerosi lateral amiotr\u00f2fica"},"content":{"rendered":"

\"\"<\/p>\n

estrat\u00e8gia terap\u00e8utica en diverses ocasions en qu\u00e8 s’ha provat de tractar-hi malalties degeneratives com ara la d’Alzheimer.<\/p>\n

Per tal d’esclarir aquesta q\u00fcesti\u00f3, diversos investigadors de l’Institut de Bioenginyeria de Catalunya (IBEC) i del Centre de Regulaci\u00f3 Gen\u00f2mica (CRG) han posat en pr\u00e0ctica un enfocament innovador denominat ‘mutag\u00e8nesi profunda’ i n’han obtingut uns resultats inesperats. \u201cEn estudiar totes les mutacions possibles d’una prote\u00efna, disposem d’un m\u00e8tode molt m\u00e9s fiable per comprendre’n la toxicitat i estem entusiasmats de poder ampliar l’estudi a moltes m\u00e9s prote\u00efnes relacionades amb les malalties neurodegeneratives\u201d, afirma Benedetta Bolognesi, investigadora de l’IBEC i autora que apareix en primer lloc a l’article.<\/p>\n

En el marc d’una col\u00b7laboraci\u00f3 entre els laboratoris dels professors de recerca ICREA Ben Lehner i Gian Tartaglia, Benedetta Bolognesi i Andre J. Faure es van centrar en la TDP-43, una prote\u00efna que s’agrega en les neurones motores de pr\u00e0cticament tots els pacients d’ELA. Van crear m\u00e9s de 50.000 mutants de TDP-43 i van fer un seguiment de la seva toxicitat sobre c\u00e8l\u00b7lules de llevat. Aix\u00ed, van descobrir que les formes mutants que s’agregaven, de fet, eren menys t\u00f2xiques que altres versions de la prote\u00efna que, en canvi, formaven unes especies l\u00edquides inusuals en les c\u00e8l\u00b7lules. \u201c\u00c9s exactament el contrari del que esper\u00e0vem\u201d, comenta Lehner, i posa en q\u00fcesti\u00f3 molts dels sup\u00f2sits existents en aquest camp.<\/p>\n

Encara no s’ha establert si l’agregaci\u00f3 de TDP-43 tamb\u00e9 actua com a protectora en c\u00e8l\u00b7lules i neurones de mam\u00edfers, un estudi en el qual treballa actualment Bolognesi, per\u00f2, si finalment \u00e9s aix\u00ed, significar\u00e0 que haurem de canviar per complet la manera com abordem terap\u00e8uticament l’ELA, si volem obtenir-ne repercussions significatives.<\/p>\n

\n

Refer\u00e8ncia de l’article:<\/strong> Bolognesi, B., Faure, A.J., Seuma, M., Schmiedel, J.M., Tartaglia, G.G. & Ben Lehner (2019). The mutational landscape of a prion-like domain<\/a>. Nature Communications<\/em> 10, 4162<\/p>\n

\n

 <\/p>\n

Per a m\u00e9s informaci\u00f3 contartar amb:
\n<\/strong>\u00c0ngels L\u00f3pez \u00b7 Departament de Comunicaci\u00f3
\nalopez@ibecbarcelona.eu<\/p>\n","protected":false},"excerpt":{"rendered":"

Investigadors de l’IBEC i el CRG a Barcelona utilitzen una t\u00e8cnica denominada ‘mutag\u00e8nesi d’alt rendiment’ per estudiar l’esclerosi lateral amiotr\u00f2fica (ELA) i n’obtenen resultats inesperats.<\/H3> Aquests resultats van demostrar que l’agregaci\u00f3 de TDP-43, no nom\u00e9s no \u00e9s perjudicial sin\u00f3 que, en realitat, protegeix les c\u00e8l\u00b7lules, fet que canvia el que se sabia sobre l’ELA i obre la porta a enfocaments terap\u00e8utics totalment nous<\/strong>. <\/p>\n

L’esclerosi lateral amiotr\u00f2fica (ELA) \u00e9s una malaltia devastadora i incurable del sistema nervi\u00f3s que afecta les c\u00e8l\u00b7lules nervioses del cervell i la medul\u00b7la espinal i que provoca p\u00e8rdua de control muscular i, habitualment, la mort al cap de pocs anys de ser diagnosticada. En l’ELA, com en altres malalties neurodegeneratives, fa temps que es consideren certs agregats de prote\u00efnes com a trets distintius patol\u00f2gics, tot i que encara no se sap amb claredat la causa real de la malaltia. De fet, la reducci\u00f3 de l’agregaci\u00f3 d’aquestes prote\u00efnes no ha tingut \u00e8xit com a<\/p>\n","protected":false},"author":4,"featured_media":68351,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[96],"tags":[1107,158,592],"post_formats":[],"class_list":["post-68367","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticies-de-recerca","tag-benedetta-bolognesi-ca","tag-ibec-ca","tag-nature-communications-ca"],"yoast_head":"\nInvestigadors duen a terme milers de mutacions per comprendre millor l'esclerosi lateral amiotr\u00f2fica - 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\/investigadors-duen-a-terme-milers-de-mutacions-per-comprendre-millor-lesclerosi-lateral-amiotrofica\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Investigadors duen a terme milers de mutacions per comprendre millor l'esclerosi lateral amiotr\u00f2fica - Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"og:description\" content=\"Investigadors de l'IBEC i el CRG a Barcelona utilitzen una t\u00e8cnica denominada 'mutag\u00e8nesi d'alt rendiment' per estudiar l'esclerosi lateral amiotr\u00f2fica (ELA) i n'obtenen resultats inesperats. 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