La Retinosi pigment\u00e0ria \u00e9s una ceguesa progressiva que afecta m\u00e9s d’un mili\u00f3 de persones a tot el m\u00f3n. Un subtipus d’aquesta malaltia est\u00e0 causat per mutacions en gens que produeixen prote\u00efnes responsables d’un proc\u00e9s de maduraci\u00f3 d’ARN conegut com “splicing”. <\/p>\n
Investigadors del grup de gen\u00e8tica molecular humana de l’Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge, liderats per Juli\u00e1n Cer\u00f3n, han creat un model del cuc C.elegans<\/em> que presenta les alteracions gen\u00e8tiques hom\u00f2logues a les de la malaltia en humans. Aix\u00ed, aquest model obre una via prometedora per entendre la patologia i investigar noves ter\u00e0pies eficients. <\/p>\n El treball, finan\u00e7at per la Fundaci\u00f3 La Marat\u00f3 de TV3, ha estat publicat a la revista RNA <\/p>\n Els gens que produeixen prote\u00efnes de “splicing” s’expressen en totes les c\u00e8l\u00b7lules de l’organisme. No obstant aix\u00f2, mutacions en aquests gens afecten nom\u00e9s a la retina on produeixen la mort de les c\u00e8l\u00b7lules, i no a altres teixits. Es tracta d’un misteri que encara no s’ha resolt. <\/p>\n L’estudi, realitzat principalment per l’estudiant de doctorat Karinna Rubio i els doctors Laura Fontrodona i David Aristiz\u00e1bal, combina transcript\u00f2mica, gen\u00e8tica i biologia cel\u00b7lular per crear un model \u00fanic en el qual estudiar la Retinosi pigment\u00e0ria. <\/p>\n Els investigadors han observat que inactivando en el cuc C.elegans<\/em> els gens hom\u00f2legs als causants de la malaltia, l’animal tamb\u00e9 presenta una mort cel\u00b7lular espec\u00edficament en un tipus cel\u00b7lular de l’organisme. <\/p>\n A m\u00e9s, aquest estudi proposa una nova hip\u00f2tesi, basada en la inestabilitat gen\u00f2mica de les c\u00e8l\u00b7lules afectades, per explicar l’especificitat de la malaltia a la retina. <\/p>\n L’investigador Juli\u00e1n Cer\u00f3n ha explicat que “actualment el grup est\u00e0 treballant en reproduir en C.elegans<\/em> les mutacions que existeixen en pacients. La gran similitud que presenten aquests gens entre humans i cucs permetria, mitjan\u00e7ant la t\u00e8cnica d\u2019edici\u00f3 de genomes CRISPR, crear animals “avatar” amb la mateixa mutaci\u00f3 del pacient. Aix\u00f2 \u00e9s prometedor ja que C. elegans es podria convertir en una plataforma sobre la qual assajar f\u00e0rmacs d’una manera personalitzada\u201d. <\/p>\n Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis. Rubio-Pe\u00f1a K, Fontrodona L, Aristiz\u00e1bal-Corrales D, Torres S, Cornes E, Garc\u00eda-Rodr\u00edguez FJ, Serrat X, Gonz\u00e1lez-Knowles D, Foissac S, Porta-De-La-Riva M, Cer\u00f3n J. <\/p>\n RNA. 2015 Oct 21. [Epub ahead of print]<\/p>\n","protected":false},"excerpt":{"rendered":" Mutacions globals, patologia local Cucs avatar Referencia<\/p>\n","protected":false},"author":6,"featured_media":10845,"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":[1,355],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-12 03:11:14","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8068"}],"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=8068"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8068\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10845"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8068"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8068"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8068"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}