{"id":7695,"date":"2018-02-14T00:00:00","date_gmt":"2018-02-13T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2018\/02\/14\/descobreixen-la-implicacio-dun-transportador-daminoacids-en-la-sordesa-associada-a-ledat\/"},"modified":"2020-05-13T19:46:32","modified_gmt":"2020-05-13T17:46:32","slug":"descobreixen-la-implicacio-dun-transportador-daminoacids-en-la-sordesa-associada-a-ledat","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2018\/02\/descobreixen-la-implicacio-dun-transportador-daminoacids-en-la-sordesa-associada-a-ledat\/","title":{"rendered":"Descobreixen la implicaci\u00f3 d&#8217;un transportador d&#8217;amino\u00e0cids en la sordesa associada a l&#8217;edat"},"content":{"rendered":"<p>Les unitats CIBERER U730 i U731, liderades respectivament per Virginia Nunes (IDIBELL, UB) i Manuel Palac\u00edn (IRBB, UB) publiquen a\u00a0<em>eLife<\/em>\u00a0un treball desenvolupat en col\u00b7laboraci\u00f3 amb les unitats U761 (Isabel Varela-Nieto, CSIC \/ UAM) i U716 (Mara Dierssen, CRG), aix\u00ed com amb grups internacionals, Dra. Meritxell Espino (Sidra Medicine, Qatar) i el Dr. Paolo Gasparini (Universitat de Trieste, It\u00e0lia).<\/p>\n<p>\u00a0<\/p>\n<p>En el treball publicat s&#8217;aborda el fenotipat del model de ratol\u00ed knockout per al gen Slc7a8, generat per les unitats U730 i U731. SLC7A8 \u00e9s la subunitat catal\u00edtica d&#8217;un transportador heterom\u00e9rico d&#8217;amino\u00e0cids neutres conegut com LAT2 (L-Type Amino Acid Transporter-2) que s&#8217;expressa en el t\u00fabul proximal renal, intest\u00ed prim, barrera hemotoencef\u00e1lica i placenta en ratol\u00ed.<\/p>\n<p>\u00a0<\/p>\n<p>Les proves conductuals realitzades per la U716 van permetre detectar una possible hipoac\u00fasia, que va ser confirmada despr\u00e9s d&#8217;un profund fenotipat auditiu realitzat per la U761. Els resultats confirmen que SLC7A8 s&#8217;expressa en l&#8217;o\u00efda interna del ratol\u00ed i que la seva abs\u00e8ncia produeix sordesa associada amb l&#8217;edat (Age-Related Hearing Loss, ARHL), deguda al dany produ\u00eft en estructures coclears tals com l\u2019\u00f2rgan de Corti, el gangli espiral i la stria vascularis. En paral\u00b7lel, es van identificar diverses mutacions en el gen SLC7A8 en un grup de pacients amb ARHL provinents de dos pobles a\u00efllats d&#8217;It\u00e0lia. L&#8217;an\u00e0lisi funcional &#8220;in vitro&#8221; va revelar una disminuci\u00f3 significativa en l&#8217;activitat de transport en les variants p.Val302Ile, p.Arg418His, p.Thr402Met i Val460Glu, donant suport a la implicaci\u00f3 de SLC7A8 en la sordesa associada a l&#8217;edat.<\/p>\n<p>\u00a0<\/p>\n<p>Aquest treball demostra que el transportador SLC7A8 \/ SLC3A2 t\u00e9 un paper rellevant en la sordesa associada a l&#8217;edat, obrint la porta a la implicaci\u00f3 dels transportadors d&#8217;amino\u00e0cids en un percentatge significatiu de les sordeses gen\u00e8tiques no identificades.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Les unitats CIBERER U730 i U731, liderades respectivament per Virginia Nunes (IDIBELL, UB) i Manuel Palac\u00edn (IRBB, UB) publiquen a\u00a0eLife\u00a0un treball desenvolupat en col\u00b7laboraci\u00f3 amb les unitats U761 (Isabel Varela-Nieto, CSIC \/ UAM) i U716 (Mara Dierssen, CRG), aix\u00ed com amb grups internacionals, Dra. Meritxell Espino (Sidra Medicine, Qatar) i el Dr. Paolo Gasparini (Universitat [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":10610,"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":[396,334],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-08 21:06:53","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7695"}],"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=7695"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7695\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10610"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=7695"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=7695"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=7695"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}