{"id":10617,"date":"2021-01-06T00:31:51","date_gmt":"2021-01-06T05:31:51","guid":{"rendered":"https:\/\/nebula.org\/blog\/genetica-del-sindrome-de-piernas-inquietas-winkelmann-2011\/"},"modified":"2021-02-20T20:39:20","modified_gmt":"2021-02-21T01:39:20","slug":"genetica-del-sindrome-de-piernas-inquietas-winkelmann-2011","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/es\/genetica-del-sindrome-de-piernas-inquietas-winkelmann-2011\/","title":{"rendered":"S\u00edndrome de piernas inquietas (Winkelmann, 2011)"},"content":{"rendered":"\n<p><strong>T\u00cdTULO DEL ESTUDIO:<\/strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3136436\/\"> Estudio de asociaci\u00f3n de todo el genoma identifica nuevos loci de susceptibilidad al s\u00edndrome de piernas inquietas en 2p14 y 16q12.1<\/a><\/p>\n\n<p><strong>RESUMEN:<\/strong> El s\u00edndrome de piernas inquietas se asocia con variantes cercanas al gen MEIS1 y al gen TOX3.<\/p>\n\n<p><strong>DESCRIPCI\u00d3N:<\/strong> El s\u00edndrome de las piernas inquietas causa sensaciones inc\u00f3modas en las piernas e impulsos irresistibles de moverlas. Esto afecta con mayor frecuencia al paciente por la noche, lo que dificulta que pueda dormir bien. Si bien estudios previos de todo el genoma han descubierto variantes correlacionadas con esta condici\u00f3n, no explican toda la heredabilidad de la misma. Este estudio de asociaci\u00f3n de todo el genoma identific\u00f3 variantes gen\u00e9ticas vinculadas a este s\u00edndrome mediante el estudio de 2.448 individuos de ascendencia europea. Dos variantes gen\u00e9ticas se destacaron como altamente significativas: una en un intr\u00f3n (regi\u00f3n no codificante) cerca del gen MEIS1 y la otra en el gen TOX3. El producto del gen TOX3 est\u00e1 involucrado en desenrollar el ADN para activar otros genes. El gen MEIS1 codifica una prote\u00edna que regula la actividad de otros genes y es necesaria para la producci\u00f3n de c\u00e9lulas sangu\u00edneas.<\/p>\n\n<p><strong>\u00bfSAB\u00cdAS?<\/strong> Adem\u00e1s de tomar medicamentos, los s\u00edntomas de este s\u00edndrome pueden aliviarse tomando ba\u00f1os calientes, masajeando los m\u00fasculos de las piernas, haciendo ejercicio, evitando la cafe\u00edna y teniendo un buen horario de sue\u00f1o. [<a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/restless-legs-syndrome\/diagnosis-treatment\/drc-20377174\"> FUENTE<\/a> ]<\/p>\n\n<p><strong>RESULTADOS DE LA MUESTRA:<\/strong> M\u00e1s informaci\u00f3n sobre el<a href=\"https:\/\/nebula.org\/blog\/es\/nebulosa-biblioteca-desbloqueo-investigacion-genetica\/\"> Biblioteca de investigaci\u00f3n de nebulosa<\/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=\"Ejemplo de resultados personalizados en Nebula\" 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 ASOCIADAS A PIERNAS INQUIETAS:<\/strong> rs2300478, rs12593813, rs9357271, rs3104767, rs6747972, rs1975197<\/p>\n\n<p><strong>RECURSOS ADICIONALES:<\/strong> <br\/><a href=\"https:\/\/www.ninds.nih.gov\/Disorders\/Patient-Caregiver-Education\/Fact-Sheets\/Restless-Legs-Syndrome-Fact-Sheet\">Hojas informativas sobre el s\u00edndrome de piernas inquietas<\/a><br\/><a href=\"https:\/\/www.dnalc.org\/view\/15549-Transcription-translation-Exons-and-introns.html\">Exones e intrones<\/a><\/p>\n\n<p><strong>ACTUALIZACI\u00d3N SEMANAL:<\/strong> 23 de julio de 2019<\/p>\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>T\u00cdTULO DEL ESTUDIO: Estudio de asociaci\u00f3n de todo el genoma identifica nuevos loci de susceptibilidad al s\u00edndrome de piernas inquietas en 2p14 y 16q12.1 RESUMEN: El s\u00edndrome de piernas inquietas se asocia con variantes cercanas al gen MEIS1 y al &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/es\/genetica-del-sindrome-de-piernas-inquietas-winkelmann-2011\/\"> <span class=\"screen-reader-text\">S\u00edndrome de piernas inquietas (Winkelmann, 2011)<\/span> Leer m\u00e1s \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":5574,"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":[4982],"tags":[],"class_list":["post-10617","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-informes"],"yoast_head":"<!-- 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