{"id":21731,"date":"2026-01-19T07:00:39","date_gmt":"2026-01-19T10:00:39","guid":{"rendered":"https:\/\/encodexa.com.br\/exames\/?p=21731"},"modified":"2025-12-22T19:45:54","modified_gmt":"2025-12-22T22:45:54","slug":"rugas-geneticas-2","status":"publish","type":"post","link":"https:\/\/encodexa.com.br\/exames\/2026\/01\/19\/rugas-geneticas-2\/","title":{"rendered":"Rugas Gen\u00e9ticas"},"content":{"rendered":"\t\t
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Ruges Gen\u00e9ticas.<\/p>

Um estudo canadense publicado recentemente na revista Nature, analisou o DNA de mais de 17.000 fam\u00edlias, visando elucida\u00e7\u00e3o da patogenia do autismo. Nesse estudo foram identificadas pequenas altera\u00e7\u00f5es no DNA, apelidadas pelos cientistas de \u201crugas gen\u00e9ticas\u201d que podem explicar porque algumas crian\u00e7as apresentem o transtorno do espectro autista.\u00a0<\/p>

Essas rugas s\u00e3o repeti\u00e7\u00f5es sequenciais de algumas letras que comp\u00f5em a mol\u00e9cula de DNA humana chamadas repeti\u00e7\u00f5es em tandem. Por exemplo, repeti\u00e7\u00f5es de 2 a 20 letras se ampliam e ocorrem por aproximadamente 40 vezes. Essas regi\u00f5es ampliadas comp\u00f5em os chamados s\u00edtios fr\u00e1geis citogen\u00e9ticos, que predisp\u00f5em \u00e0 quebra da mol\u00e9cula de DNA podendo formar novos arranjos cromoss\u00f4micos.\u00a0\u00a0<\/p>

As repeti\u00e7\u00f5es em tandem de DNA j\u00e1 foram associadas a mais de 40 doen\u00e7as heredit\u00e1rias. Mas seu envolvimento em dist\u00farbios com gen\u00e9tica complexa como o autismo era desconhecido, em parte porque muitos indiv\u00edduos normais, tidos como controle, podem apresenta-las.\u00a0\u00a0<\/p>

Sabe-se que transtornos gen\u00e9ticos tem uma grande import\u00e2ncia na apresenta\u00e7\u00e3o do autismo e estima-se que sejam respons\u00e1veis por cerca de metade a 90% dos casos.\u00a0 Atualmente, essas anormalidades gen\u00e9ticas s\u00e3o encontradas em somente 20% dos casos, portanto o achado dessas regi\u00f5es denominadas \u201crugas gen\u00e9ticas\u201d \u00e9 fundamental.\u00a0<\/p>

Essa descoberta traz uma luz na compreens\u00e3o das altera\u00e7\u00f5es determinantes da apresenta\u00e7\u00e3o do fen\u00f3tipo do espectro autista, podendo inclusive contribuir para o desenvolvimento de terapias. De acordo com os autores do estudo essa nova descoberta \u00e9 o mais excitante avan\u00e7o em rela\u00e7\u00e3o ao autismo dos \u00faltimos 15 anos.<\/p>

Encodexa\u2122.<\/a><\/p>

Ref.:<\/p>

Brett Trost et al\u00a0 Genome-wide detection of tandem DNA repeats that are expanded in autism Nature 2020 Jul 27. doi: 10.1038\/s41586-020-2579-z.<\/em><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Um estudo canadense publicado recentemente na revista Nature, analisou o DNA de mais de 17.000 fam\u00edlias, visando elucida\u00e7\u00e3o da patogenia do autismo.<\/p>\n","protected":false},"author":2,"featured_media":18535,"comment_status":"closed","ping_status":"open","sticky":false,"template":"elementor_header_footer","format":"standard","meta":{"_acf_changed":false,"_bbp_topic_count":0,"_bbp_reply_count":0,"_bbp_total_topic_count":0,"_bbp_total_reply_count":0,"_bbp_voice_count":0,"_bbp_anonymous_reply_count":0,"_bbp_topic_count_hidden":0,"_bbp_reply_count_hidden":0,"_bbp_forum_subforum_count":0,"footnotes":""},"categories":[221],"tags":[],"post_folder":[],"class_list":["post-21731","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-artigos"],"acf":[],"yoast_head":"\nRugas Gen\u00e9ticas - Blog Encodexa .<\/title>\n<meta name=\"description\" content=\"Estudo canadense publicado na revista Nature, analisou o DNA de mais de 17.000 fam\u00edlias, visando elucida\u00e7\u00e3o da patogenia do autismo.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/encodexa.com.br\/exames\/2026\/01\/19\/rugas-geneticas-2\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Rugas Gen\u00e9ticas\" \/>\n<meta property=\"og:description\" content=\"Estudo canadense publicado na revista Nature, analisou o DNA de mais de 17.000 fam\u00edlias, visando elucida\u00e7\u00e3o da patogenia do autismo.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/encodexa.com.br\/exames\/2026\/01\/19\/rugas-geneticas-2\/\" \/>\n<meta property=\"og:site_name\" content=\"Econdexa - 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