Investigadors de l’IDIBELL han utilitzat edici\u00f3 gen\u00e8tica en el cuc C. elegans, per tal de reproduir mutacions humanes causants de la retinosis pigmentaria. Aquest m\u00e8tode els ha perm\u00e8s estudiar factors que influeixen en el desenvolupament de la malaltia i possibles tractaments farmacol\u00f2gics.<\/p>\n
Sovint, pacients d’una mateixa fam\u00edlia, i portadors de la mateixa mutaci\u00f3 gen\u00e8tica, desenvolupen la malaltia de manera diferent. Aix\u00f2 pot ser degut a l’exist\u00e8ncia de mutacions en altres gens secundaris, les quals influeixen en l’aparici\u00f3 i progressi\u00f3 de la malaltia causada per una mutaci\u00f3 principal. Aix\u00ed, per exemple, membres d’una fam\u00edlia que s\u00f3n portadors de la mateixa mutaci\u00f3 poden comen\u00e7ar a patir s\u00edmptomes als 20 anys, i altres als 50 anys. Con\u00e8ixer quins factors influeixen en el fet que la malaltia aparegui abans o despr\u00e9s, i que es desenvolupi d’una manera o altra, ajudaria a un millor pron\u00f2stic i a l’aplicaci\u00f3 de tractaments preventius. La retinosis pigmentaria \u00e9s un grup de malalties gen\u00e8tiques i degeneratives, que es caracteritzen per la p\u00e8rdua progressiva de les c\u00e8l\u00b7lules receptores de la llum a la retina, el que acaba provocant la falta de resposta a la llum, i per tant, la p\u00e8rdua progressiva de la visi\u00f3.<\/p>\n
Dos investigadors del grup del Dr. Juli\u00e1n Cer\u00f3n, Dmytro Kukhtar i Karinna Rubio-Pe\u00f1a, de l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), han treballat sobre aquesta q\u00fcesti\u00f3 en els darrers anys. Per fer-ho, i mitjan\u00e7ant la t\u00e8cnica d\u2019edici\u00f3 gen\u00e8tica CRISPR, van introduir en cucs C. elegans mutacions causants de la retinosis pigmentaria en humans. Posteriorment, aquestes mutacions es van classificar en dos grups: les que causaven un problema obvi als cucs (p. ex. esterilitat o menor grand\u00e0ria) i les que no.<\/p>\n
Els cucs que no van resultar afectats per les mutacions humanes es van utilitzar per buscar altres gens la inactivaci\u00f3 dels quals caus\u00e9s alteracions en els cucs mutants, per\u00f2 no en els cucs control. Aix\u00ed es van identificar fins a tres gens que podrien estar modificant la malaltia, i juntament amb la mutaci\u00f3 principal, podrien produir una progressi\u00f3 diferencial d\u2019aquesta.<\/p>\n
D’altra banda, aquells cucs avatar als quals la mutaci\u00f3 humana els causava un defecte, van ser utilitzats per buscar f\u00e0rmacs que disminu\u00efssin l’efecte negatiu de la mutaci\u00f3. El resultat va ser sorprenent perqu\u00e8 es van identificar f\u00e0rmacs que eren nocius per als cucs amb les mutacions humanes, per\u00f2 que no afectaven igual als cucs control. Amb aix\u00f2, aquest estudi canvia el paradigma de la recerca de f\u00e0rmacs pel tractament de malalties, ja que, tot i que \u00e9s important trobar f\u00e0rmacs que curin, tamb\u00e9 \u00e9s rellevant identificar aquells medicaments que puguin ser perjudicials per a pacients amb determinades mutacions gen\u00e8tiques.<\/p>\n
Aquest treball de recerca ha estat finan\u00e7at principalment per l’Institut de Salut Carlos III (ISCIII) i per la fundaci\u00f3 ONCE.<\/p>\n
Refer\u00e8ncia:<\/p>\n
Mimicking of splicing-related retinitis pigmentosa mutations in C. elegans allow drug screens and identification of disease modifiers. Kukhtar D, Rubio-Pe\u00f1a K, Serrat X, Cer\u00f3n J. Human Molecular Genetics. 2020 Jan 10. pii: ddz315.<\/p>\n","protected":false},"excerpt":{"rendered":"
Investigadors de l’IDIBELL han utilitzat edici\u00f3 gen\u00e8tica en el cuc C. elegans, per tal de reproduir mutacions humanes causants de la retinosis pigmentaria. Aquest m\u00e8tode els ha perm\u00e8s estudiar factors que influeixen en el desenvolupament de la malaltia i possibles tractaments farmacol\u00f2gics. Sovint, pacients d’una mateixa fam\u00edlia, i portadors de la mateixa mutaci\u00f3 gen\u00e8tica, desenvolupen […]<\/p>\n","protected":false},"author":6,"featured_media":10398,"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":"full-width-container","site-content-style":"unboxed","site-sidebar-style":"unboxed","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":"set","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":[334,355,464],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-13 20:44:30","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7362"}],"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=7362"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7362\/revisions"}],"predecessor-version":[{"id":24637,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7362\/revisions\/24637"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10398"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=7362"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=7362"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=7362"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}