{"id":34604,"date":"2023-01-19T17:22:41","date_gmt":"2023-01-19T16:22:41","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=34604"},"modified":"2023-01-19T17:22:42","modified_gmt":"2023-01-19T16:22:42","slug":"el-risc-de-patir-diabetis-varia-segons-com-es-regula-lsplicing-de-larn","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/el-risc-de-patir-diabetis-varia-segons-com-es-regula-lsplicing-de-larn\/","title":{"rendered":"El risc de patir diabetis varia segons com es regula l&#8217;splicing de l&#8217;ARN"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">La <strong><a href=\"https:\/\/ellipse.prbb.org\/ca\/descobert-un-estabilitzador-genomic-que-regula-un-gen-de-la-diabetis\/\" target=\"_blank\" rel=\"noreferrer noopener\">diabetis<\/a><\/strong> \u00e9s una malaltia cr\u00f2nica que afecta a m\u00e9s de <strong>420 milions de persones a tot el m\u00f3n<\/strong> i la seva <a rel=\"noreferrer noopener\" href=\"https:\/\/www.who.int\/es\/news-room\/fact-sheets\/detail\/diabetes\" target=\"_blank\">prevalen\u00e7a creix<\/a> amb els anys. Les persones afectades tenen un <strong>d\u00e8ficit en la producci\u00f3 o \u00fas de la insulina<\/strong>, la hormona que regula la pres\u00e8ncia de la glucosa en sang. I, en la majoria dels casos, aquest d\u00e8ficit deriva en problemes de visi\u00f3, card\u00edacs o renals. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Malgrat que <strong>no es coneix la causa exacta d&#8217;aquesta malaltia<\/strong>, se sap que hi ha una s\u00e8rie de <strong>variants gen\u00e8tiques<\/strong> que <strong>influeixen en la predisposici\u00f3 de patir<\/strong> alguna de les tipologies de la diabetis. A m\u00e9s, se sap que algunes d&#8217;aquestes <strong>variants, que es troben a regions no-codificants, regulen l&#8217;<a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/lsplicing-o-empalmament\/\" target=\"_blank\">splicing<\/a> de l&#8217;ARN<\/strong>. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ara, l&#8217;equip d&#8217;investigadors del <a rel=\"noreferrer noopener\" href=\"http:\/\/www.crg.eu\/\" target=\"_blank\">Centre de Regulaci\u00f3 Gen\u00f2mica (CRG)<\/a> liderats pel <strong><a href=\"https:\/\/www.crg.eu\/es\/programmes-groups\/ferrer-lab\" target=\"_blank\" rel=\"noreferrer noopener\">Jorge Ferrer<\/a><\/strong> han analitzat els <strong>ARN presents en els illots pancre\u00e0tics<\/strong> de m\u00e9s de <strong>400 donants humans<\/strong>. Amb els resultats, han desenvolupat un <a rel=\"noreferrer noopener\" href=\"https:\/\/www.crg.eu\/en\/news\/human-diabetes-risk-influenced-genomic-regulation-rna-splicing\" target=\"_blank\">atles de les variants gen\u00e8tiques que regulen l&#8217;splicing d&#8217;ARN en els illots pancre\u00e0tics<\/a>. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Paral\u00b7lelament, han analitzat <strong>quines variants gen\u00e8tiques influeixen en l&#8217;expressi\u00f3 dels gens <\/strong>que condicionen el<strong> risc<\/strong> de patir diabetis de tipus 1 i 2. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Aquestes dues an\u00e0lisis els han perm\u00e8s determinar <strong>nous mecanismes biol\u00f2gics<\/strong> de la malaltia. N&#8217;\u00e9s un exemple la interrupci\u00f3 de la funci\u00f3 del gen ERO1B que resulta en una prote\u00efna truncada que probablement no funciona correctament.  <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Aix\u00ed, tal com explica la <strong><a rel=\"noreferrer noopener\" href=\"https:\/\/twitter.com\/sbguarch\" target=\"_blank\">S\u00edlvia Bon\u00e0s-Guarch<\/a><\/strong> co-autora principal de l&#8217;estudi, \u201cs&#8217;<strong>obre la porta a nous enfocaments terap\u00e8utics<\/strong> que aprofitin la gran influ\u00e8ncia de l\u2019splicing en la biologia dels illots pancre\u00e0tics i la diabetis\u201d.<\/p>\n\n\n\n<div style=\"height:100px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n","protected":false},"excerpt":{"rendered":"<p>L&#8217;estudi de dos atles gen\u00f2mics ha perm\u00e8s descobrir nous mecanismes biol\u00f2gics de la malaltia. <\/p>\n","protected":false},"author":26,"featured_media":34621,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[26],"tags":[555,265,806,706],"new-type":[35],"class_list":["post-34604","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-recerca","tag-arn","tag-crg-ca","tag-diabetis","tag-genomica","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/34604","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\/26"}],"replies":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/comments?post=34604"}],"version-history":[{"count":15,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/34604\/revisions"}],"predecessor-version":[{"id":34693,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/34604\/revisions\/34693"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/34621"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=34604"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=34604"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=34604"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=34604"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}