{"id":33469,"date":"2022-11-14T14:24:20","date_gmt":"2022-11-14T13:24:20","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=33469"},"modified":"2022-11-14T14:31:39","modified_gmt":"2022-11-14T13:31:39","slug":"descobert-un-estabilitzador-genomic-que-regula-un-gen-de-la-diabetis","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/descobert-un-estabilitzador-genomic-que-regula-un-gen-de-la-diabetis\/","title":{"rendered":"Descobert un estabilitzador gen\u00f2mic que regula un gen de la diabetis"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">\u201cEl genoma hum\u00e0 dedica molt m\u00e9s espai a regular els gens que als mateixos gens\u201d, afirma en <strong>Jorge Ferrer<\/strong>, investigador del <a rel=\"noreferrer noopener\" href=\"http:\/\/www.crg.eu\/\" target=\"_blank\">Centre de Regulaci\u00f3 Gen\u00f2mica (CRG)<\/a>. Efectivament, nom\u00e9s entre un 1 i un 2% del genoma s\u00f3n seq\u00fc\u00e8ncies que codifiquen prote\u00efnes. Aprofundir en el coneixement de les zones del genoma que, aparentment, no tenen funci\u00f3 ens podria aportar m\u00e9s informaci\u00f3 sobre com es produeixen les malalties. Un <a rel=\"noreferrer noopener\" href=\"https:\/\/www.crg.eu\/en\/news\/diabetes-causing-gene-can-be-regulated-rheostat\" target=\"_blank\">nou estudi<\/a> del CRG en col\u00b7laboraci\u00f3 amb l\u2019Imperial College de Londres ha analitzat precisament una d&#8217;aquestes regions i aix\u00ed ha identificat un nou <strong>regulador de l\u2019activitat<\/strong> d\u2019un dels <strong>gens que causa la <a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/ratolins-peixos-i-organoides-contra-la-diabetis\/\" target=\"_blank\">diabetis<\/a><\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>HNF1A<\/strong> \u00e9s un gen que s\u2019expressa en moltes c\u00e8l\u00b7lules de l\u2019organisme, per\u00f2 en expressar-se al p\u00e0ncrees <strong>produeix<\/strong> el <strong>factor nuclear 1 alfa d\u2019hepat\u00f2cits<\/strong>. Aquesta prote\u00efna t\u00e9 una funci\u00f3 important en el desenvolupament de les <strong><a href=\"https:\/\/ellipse.prbb.org\/ca\/de-cellules-mare-a-cellules-beta-pancreatiques-funcionals\/\" target=\"_blank\" rel=\"noreferrer noopener\">c\u00e8l\u00b7lules \u03b2<\/a><\/strong>, encarregades de produir l\u2019hormona <strong>insulina<\/strong>, reguladora de la concentraci\u00f3 sangu\u00ednia de sucre. Una <strong>mutaci\u00f3<\/strong> en el gen HNF1A comporta que el pacient desenvolupi <strong>diabetis<\/strong> de l\u2019adult d\u2019inici juvenil.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Per a entendre millor com es regula HNF1A l\u2019equip cient\u00edfic ha analitzat, en <strong>models humans i <a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/arnau-busquets-imim-els-cientifics-som-els-primers-que-volem-el-benestar-dels-animals-si-lanimal-no-esta-be-el-resultat-no-sera-valid\/\" target=\"_blank\">de ratol\u00ed<\/a><\/strong>, la seq\u00fc\u00e8ncia del genoma que l\u2019envolta i ha identificat l\u2019<strong>element HASTER<\/strong>. Aquesta seq\u00fc\u00e8ncia, que actua <strong>moderant la intensistat<\/strong> de producci\u00f3 d\u2019un <strong>lncRNA<\/strong>, una mol\u00e8cula llarga d\u2019<a href=\"https:\/\/ellipse.prbb.org\/ca\/de-gens-proteines-i-arn-no-codificants\/\" target=\"_blank\" rel=\"noreferrer noopener\">ARN no codificant<\/a>. Quan el gen HNF1A produeix molta prote\u00efna, la regi\u00f3 HASTER la controla reduint-ne la seva activitat. En canvi, quan hi ha una reducci\u00f3 de la transcripci\u00f3 del gen, HASTER ajusta la intensitat augmentant la producci\u00f3 de la prote\u00efna.<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<blockquote class=\"wp-block-quote has-text-align-center is-layout-flow wp-block-quote-is-layout-flow\"><p><em>\u201cHem denominat HASTER com a <strong>estabilitzador<\/strong>, en contrast amb d\u2019altres elements reguladors de l\u2019ADN com potenciadors, promotors i silenciadors\u201d<\/em><br><strong>Jorge Ferrer, CRG<\/strong><\/p><\/blockquote>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">L&#8217;estudi tamb\u00e9 mostra que HASTER \u00e9s un element cr\u00edtic, ja que una mutaci\u00f3 en aquesta regi\u00f3 en c\u00e8l\u00b7lules \u03b2 de ratolins \u201ct\u00e9 consq\u00fc\u00e8ncies comparables a les d&#8217;eliminar HNF1A\u201d, segons Jorge Ferrer. Encara queda molt per decobrir d&#8217;aquestes seq\u00fc\u00e8ncies gen\u00f2miques \u201csense significat\u201d que ens podrien donar repostes a com funcionen les malalties i obrir camins per a trobar noves dianes terap\u00e8utiques. \u00abHi ha desenes de milers de lncRNAs al genoma hum\u00e0, la majoria dels quals no tenen una funci\u00f3 coneguda. \u00c9s probable que aix\u00f2 sigui nom\u00e9s la punta de l\u2019iceberg\u201d, conclou Ferrer.<\/p>\n\n\n\n<div style=\"height:46px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n","protected":false},"excerpt":{"rendered":"<p>La recerca on ha participat el CRG ha observat que la regi\u00f3 HASTER estabilitza l&#8217;expressi\u00f3 del gen HNF1A, les mutacions del qual, provoquen diabetis. <\/p>\n","protected":false},"author":29,"featured_media":33470,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[26],"tags":[555,265,806,289,205],"new-type":[35],"class_list":["post-33469","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-recerca","tag-arn","tag-crg-ca","tag-diabetis","tag-genoma","tag-organismes-model","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/33469","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/users\/29"}],"replies":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/comments?post=33469"}],"version-history":[{"count":36,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/33469\/revisions"}],"predecessor-version":[{"id":33560,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/33469\/revisions\/33560"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/33470"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=33469"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=33469"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=33469"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=33469"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}