{"id":43498,"date":"2024-09-13T09:47:54","date_gmt":"2024-09-13T07:47:54","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=43498"},"modified":"2024-09-13T09:47:59","modified_gmt":"2024-09-13T07:47:59","slug":"que-hi-ha-en-els-gens","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/que-hi-ha-en-els-gens\/","title":{"rendered":"Qu\u00e8 hi ha en els gens?"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Les persones que pateixen <strong><a href=\"https:\/\/ellipse.prbb.org\/ca\/descoberta-una-possible-diana-terapeutica-per-la-malaltia-de-huntington\/\" target=\"_blank\" rel=\"noreferrer noopener\">Huntington<\/a><\/strong>, <strong>s\u00edndrome de Marfan<\/strong>, <strong><a href=\"https:\/\/ellipse.prbb.org\/ca\/controlar-la-quantitat-de-mucines-per-tractar-malalties-respiratories-i-del-colon\/\" target=\"_blank\" rel=\"noreferrer noopener\">fibrosi qu\u00edstica<\/a> <\/strong>o <strong>an\u00e8mia falciforme<\/strong> tenen una cosa en com\u00fa: <strong>un \u00fanic gen \u00e9s el culpable del seu patiment<\/strong>. \u00d2bviament, el gen \u00e9s diferent en cada cas, per\u00f2 totes aquestes s\u00f3n malalties anomenades <strong>\u201cmonog\u00e8niques\u201d<\/strong>, precisament perqu\u00e8 s\u00f3n causades per mutacions en un sol gen.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En els dos primers casos el fet de rebre nom\u00e9s una c\u00f2pia del gen mutat \u00e9s suficient per patir la malaltia: s\u00f3n <strong>malalties monog\u00e8niques \u201cdominants\u201d<\/strong>. En canvi, la fibrosi i l\u2019an\u00e8mia s\u00f3n <strong>\u201crecessives\u201d<\/strong> i per tant requereixen de rebre el gen mutat tant per part del pare com de la mare.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En la majoria de casos, per\u00f2, les coses no s\u00f3n tan senzilles. La major part de les malalties gen\u00e8tiques s\u00f3n degudes a <strong>errors en diversos gens alhora<\/strong>. A m\u00e9s, no sempre hi ha una relaci\u00f3 causal entre tenir determinats gens mutats i patir una malaltia, sin\u00f3 que l\u2019<strong>ambient<\/strong> (la dieta, l\u2019estil de vida, etc.) tamb\u00e9 hi t\u00e9 molt a dir. \u00c9s per aix\u00f2 que quan es parla d\u2019aquestes <strong><a href=\"https:\/\/ellipse.prbb.org\/ca\/una-eina-bioinformatica-per-estudiar-malalties-complexes-integrant-diferents-escales-biologiques\/\" target=\"_blank\" rel=\"noreferrer noopener\">malalties \u201ccomplexes\u201d<\/a><\/strong> (com la hipertensi\u00f3, la <a href=\"https:\/\/ellipse.prbb.org\/ca\/el-risc-de-patir-diabetis-varia-segons-com-es-regula-lsplicing-de-larn\/\" target=\"_blank\" rel=\"noreferrer noopener\">diabetis<\/a>, o fins i tot el <a href=\"https:\/\/ellipse.prbb.org\/ca\/tag\/cancer-ca\/\" target=\"_blank\" rel=\"noreferrer noopener\">c\u00e0ncer<\/a>), se sol dir que una persona t\u00e9 certa <strong>predisposici\u00f3 <\/strong>a patir la malaltia. Aix\u00f2 vol dir que t\u00e9 <strong>mutacions <\/strong>en alguns gens que faran que la malaltia en q\u00fcesti\u00f3 es desenvolupi si un dia es combinen amb mutacions a d\u2019altres gens i amb unes <strong>condicions ambientals<\/strong> determinades.<\/p>\n\n\n\n<div style=\"height:45px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><p>Les malalties complexes depenen de la interacci\u00f3 entre diversos gens i l&#8217;ambient. Tenir una major predisposici\u00f3 a patir una d\u2019aquestes malalties no vol dir que aquesta es desenvolupar\u00e0 segur.<\/p><\/blockquote>\n\n\n\n<div style=\"height:45px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Una major predisposici\u00f3 a patir una d\u2019aquestes malalties no vol dir que aquesta es desenvolupar\u00e0 segur. Aquesta complexitat, junt amb el nostre desconeixement de tots els factors involucrats, fa que sigui<strong> molt dif\u00edcil fer <a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/cordelia-estudiant-el-risc-genetic-de-patir-malalties-cardiovasculars\/\" target=\"_blank\">prediccions nom\u00e9s amb la gen\u00e8tica<\/a><\/strong>. Per aix\u00f2, mentre milers de genetistes al <a rel=\"noreferrer noopener\" href=\"https:\/\/www.prbb.org\/?l=ca\" target=\"_blank\">Parc de Recerca Biom\u00e8dica de Barcelona (PRBB)<\/a> i arreu del m\u00f3n estudien les bases gen\u00e8tiques de les malalties, hem d\u2019intentar controlar l\u2019\u00fanica part de l\u2019equaci\u00f3 que podem modificar de moment i <strong>dur un <a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/vida-sana-cervell-jove-lenvelliment-no-depen-nomes-de-ledat\/\" target=\"_blank\">estil de vida sa<\/a> i equilibrat<\/strong> en un<a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/quin-es-el-millor-tipus-de-ciutat\/\" target=\"_blank\"> espai saludable i poc contaminat.<\/a><\/p>\n\n\n\n<div style=\"height:41px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>En aquest article divulgatiu us parlem de gens dominants i recessius, de malalties monog\u00e8niques i complexes, i de molt m\u00e9s!<\/p>\n","protected":false},"author":33,"featured_media":43928,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[30],"tags":[513,708,332],"new-type":[35],"class_list":["post-43498","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ciencia-i-societat","tag-ciencia-al-descobert","tag-genetica","tag-gens","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/43498","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\/33"}],"replies":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/comments?post=43498"}],"version-history":[{"count":6,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/43498\/revisions"}],"predecessor-version":[{"id":43948,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/43498\/revisions\/43948"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/43928"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=43498"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=43498"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=43498"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=43498"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}