{"id":13476,"date":"2021-01-31T22:14:33","date_gmt":"2021-02-01T03:14:33","guid":{"rendered":"https:\/\/nebula.org\/blog\/sindrome-da-genetica-da-perna-inquieta-winkelmann-2011\/"},"modified":"2021-02-20T20:52:41","modified_gmt":"2021-02-21T01:52:41","slug":"sindrome-da-genetica-da-perna-inquieta-winkelmann-2011","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/pt-br\/sindrome-da-genetica-da-perna-inquieta-winkelmann-2011\/","title":{"rendered":"S\u00edndrome das pernas inquietas (Winkelmann, 2011)"},"content":{"rendered":"\n<p><strong>T\u00cdTULO DO ESTUDO:<\/strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3136436\/\"> Estudo de associa\u00e7\u00e3o de todo o genoma identifica novos locais de susceptibilidade \u00e0 s\u00edndrome das pernas inquietas em 2p14 e 16q12.1<\/a><\/p>\n\n<p><strong>RESUMO:<\/strong> A s\u00edndrome das pernas inquietas est\u00e1 associada a variantes pr\u00f3ximas ao gene MEIS1 e ao gene TOX3.<\/p>\n\n<p><strong>DESCRI\u00c7\u00c3O:<\/strong> A s\u00edndrome das pernas inquietas causa sensa\u00e7\u00f5es desconfort\u00e1veis nas pernas e um desejo irresist\u00edvel de mov\u00ea-las. Isso geralmente afeta o paciente \u00e0 noite, dificultando uma boa noite de sono. Embora estudos anteriores de todo o genoma tenham descoberto variantes correlacionadas a essa condi\u00e7\u00e3o, eles n\u00e3o explicam toda a herdabilidade dela. Este estudo de associa\u00e7\u00e3o do genoma identificou variantes gen\u00e9ticas ligadas a essa s\u00edndrome, estudando 2.448 indiv\u00edduos de ascend\u00eancia europeia. Duas variantes gen\u00e9ticas se destacaram como altamente significativas &#8211; uma em um \u00edntron (regi\u00e3o n\u00e3o codificante) pr\u00f3xima ao gene MEIS1 e a outra no gene TOX3. O produto do gene TOX3 est\u00e1 envolvido no desenrolamento do DNA para ativar outros genes. O gene MEIS1 codifica uma prote\u00edna que regula a atividade de outros genes e \u00e9 necess\u00e1ria para a produ\u00e7\u00e3o de c\u00e9lulas sangu\u00edneas.<\/p>\n\n<p><strong>VOC\u00ca SABIA?<\/strong> Al\u00e9m de tomar medicamentos, os sintomas dessa s\u00edndrome podem ser aliviados tomando banhos quentes, massageando os m\u00fasculos das pernas, praticando exerc\u00edcios, evitando a cafe\u00edna e tendo uma boa rotina de sono. [<a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/restless-legs-syndrome\/diagnosis-treatment\/drc-20377174\"> FONTE<\/a> ]<\/p>\n\n<p><strong>RESULTADOS DE AMOSTRA:<\/strong> Saiba mais sobre o<a href=\"https:\/\/nebula.org\/blog\/pt-br\/nebula-library-unlocking-genetic-research\/\"> Nebula Research Library<\/a> .<\/p>\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/nebula.org\/free-dna-upload-analysis\/\"><img decoding=\"async\" width=\"1024\" height=\"375\" src=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1024x375.png\" alt=\"Exemplo de resultados personalizados na nebulosa\" class=\"wp-image-1066\" srcset=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1024x375.png 1024w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-300x110.png 300w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-768x281.png 768w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1536x562.png 1536w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics.png 924w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/a><\/figure>\n\n<p><\/p>\n\n<p><strong>VARIANTES ASSOCIADOS A PERNAS SEM FIO:<\/strong> rs2300478, rs12593813, rs9357271, rs3104767, rs6747972, rs1975197<\/p>\n\n<p><strong>RECURSOS ADICIONAIS:<\/strong> <br\/><a href=\"https:\/\/www.ninds.nih.gov\/Disorders\/Patient-Caregiver-Education\/Fact-Sheets\/Restless-Legs-Syndrome-Fact-Sheet\">Fichas t\u00e9cnicas sobre a s\u00edndrome das pernas inquietas<\/a><br\/><a href=\"https:\/\/www.dnalc.org\/view\/15549-Transcription-translation-Exons-and-introns.html\">Exons e introns<\/a><\/p>\n\n<p><strong>ATUALIZA\u00c7\u00c3O SEMANAL:<\/strong> 23 de julho de 2019<\/p>\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>T\u00cdTULO DO ESTUDO: Estudo de associa\u00e7\u00e3o de todo o genoma identifica novos locais de susceptibilidade \u00e0 s\u00edndrome das pernas inquietas em 2p14 e 16q12.1 RESUMO: A s\u00edndrome das pernas inquietas est\u00e1 associada a variantes pr\u00f3ximas ao gene MEIS1 e ao &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/pt-br\/sindrome-da-genetica-da-perna-inquieta-winkelmann-2011\/\"> <span class=\"screen-reader-text\">S\u00edndrome das pernas inquietas (Winkelmann, 2011)<\/span> Leia mais \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":13486,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"site-sidebar-layout":"default","site-content-layout":"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":"","_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":""},"categories":[4999],"tags":[],"class_list":["post-13476","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-reports-pt-br"],"yoast_head":"<!-- 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