{"id":10264,"date":"2021-01-06T00:12:33","date_gmt":"2021-01-06T05:12:33","guid":{"rendered":"https:\/\/nebula.org\/blog\/genetica-del-sindrome-de-tourettes-yu-2019\/"},"modified":"2021-02-20T20:58:01","modified_gmt":"2021-02-21T01:58:01","slug":"genetica-del-sindrome-de-tourettes-yu-2019","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/es\/genetica-del-sindrome-de-tourettes-yu-2019\/","title":{"rendered":"S\u00edndrome de Tourette (Yu, 2019)"},"content":{"rendered":"\n<p><strong>T\u00cdTULO DEL ESTUDIO:<\/strong><a href=\"https:\/\/ajp.psychiatryonline.org\/doi\/10.1176\/appi.ajp.2018.18070857\"> Interrogaci\u00f3n de los determinantes gen\u00e9ticos del s\u00edndrome de Tourette y otros trastornos de tics mediante estudios de asociaci\u00f3n de todo el genoma<\/a><\/p>\n\n<p><strong>RESUMEN:<\/strong> Descubrimiento de m\u00faltiples variantes gen\u00e9ticas asociadas al s\u00edndrome de Tourette.<\/p>\n\n<p><strong>VISI\u00d3N GENERAL:<\/strong> El s\u00edndrome de Tourette es un trastorno del sistema nervioso caracterizado por movimientos o sonidos incontrolables que se conocen como tics. Afecta aproximadamente a 1 de cada 150 personas en diversos grados. Se sabe que el s\u00edndrome de Tourette es altamente heredable, y hasta el 80% del riesgo de enfermedad se hereda de los padres. Este estudio de asociaci\u00f3n de todo el genoma busc\u00f3 identificar variantes gen\u00e9ticas asociadas con el s\u00edndrome de Tourette al examinar a m\u00e1s de 20.000 individuos de ascendencia europea. Una de las principales variantes se encuentra en el gen FLT3, que codifica una prote\u00edna receptora que se cree que desempe\u00f1a un papel en las funciones del sistema inmunol\u00f3gico. Los autores tambi\u00e9n informan otras 9 variantes gen\u00e9ticas que est\u00e1n significativamente asociadas con el s\u00edndrome de Tourette.<\/p>\n\n<p><strong>\u00bfSAB\u00cdAS?<\/strong> El s\u00edndrome de Tourette generalmente se diagnostica temprano en la vida. Aunque es una enfermedad cr\u00f3nica, muchas personas afectadas experimentan un pico de s\u00edntomas en la adolescencia seguido de una mejora gradual hasta la edad adulta. <a href=\"https:\/\/www.ninds.nih.gov\/Disorders\/Patient-Caregiver-Education\/Fact-Sheets\/Tourette-Syndrome-Fact-Sheet\" target=\"_blank\" rel=\"noreferrer noopener\">[SOURCE]<\/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\/whole-genome-sequencing\/\"><img decoding=\"async\" width=\"1024\" height=\"375\" src=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1024x375.png\" alt=\"Resultados de la muestra del s&#xED;ndrome de Tourettes\" class=\"wp-image-5154\" 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><strong>VARIANTES ASOCIADAS A TOURETTE:<\/strong> rs2504235, rs191044310, rs13407215, rs2708146, rs1906252, rs12459560, rs117648881, rs6670211, rs72853320, rs73205493<\/p>\n\n<p><strong>RECURSOS ADICIONALES:<\/strong><br\/><a rel=\"noreferrer noopener\" href=\"https:\/\/www.youtube.com\/watch?v=fvz82E4YqMc\" target=\"_blank\">S\u00edndrome de Tourette: \u00bfQu\u00e9 hace que las personas tics? (V\u00eddeo)<\/a><br\/><a rel=\"noreferrer noopener\" href=\"https:\/\/tourette.org\/about-tourette\/overview\/what-is-tourette\/\" target=\"_blank\">\u00bfQu\u00e9 es el s\u00edndrome de Tourette?<\/a><\/p>\n\n<p><strong>USTED TAMBI\u00c9N PODR\u00cdA ESTAR INTERESADO EN:<br\/><\/strong><a href=\"https:\/\/nebula.org\/blog\/es\/genetica-de-temblores-muller-2016\/\"> Temblores (M\u00fcller, 2016)<\/a><br\/><a href=\"https:\/\/nebula.org\/blog\/genetics-of-epilepsy-ilaec-2014\/\">Epilepsia (ILAEC, 2014)<\/a><\/p>\n\n<p><strong>ACTUALIZACI\u00d3N SEMANAL:<\/strong> 11 de julio de 2020<\/p>\n\n<p><br\/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>T\u00cdTULO DEL ESTUDIO: Interrogaci\u00f3n de los determinantes gen\u00e9ticos del s\u00edndrome de Tourette y otros trastornos de tics mediante estudios de asociaci\u00f3n de todo el genoma RESUMEN: Descubrimiento de m\u00faltiples variantes gen\u00e9ticas asociadas al s\u00edndrome de Tourette. VISI\u00d3N GENERAL: El s\u00edndrome &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/es\/genetica-del-sindrome-de-tourettes-yu-2019\/\"> <span class=\"screen-reader-text\">S\u00edndrome de Tourette (Yu, 2019)<\/span> Leer m\u00e1s \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":6629,"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-10264","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-informes"],"yoast_head":"<!-- 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