{"id":101499,"date":"2010-10-06T00:00:00","date_gmt":"2010-10-06T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-de-diabetes-en-la-poblacion-de-castilla-y-leon\/"},"modified":"2010-10-06T00:00:00","modified_gmt":"2010-10-06T00:00:00","slug":"estudio-genetico-de-diabetes-en-la-poblacion-de-castilla-y-leon","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/endocrinologia\/estudio-genetico-de-diabetes-en-la-poblacion-de-castilla-y-leon\/","title":{"rendered":"Estudio gen\u00e9tico de diabetes en la poblaci\u00f3n de castilla y le\u00f3n"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Elena Gonzalez Ruano <\/strong><\/h2>\n<p>El estudio de caracterizaci\u00f3n de variantes al\u00e9licas asociadas al desarrollo de diabetes mostr\u00f3 que el polimorfismo -238 a>g del gen tnfa se asocia una mayor susceptibilidad desarrollo de dm1 y dm2, mientras que el polimorfismo 223 a>g del gen il4r se asocia a una mayor susceptibilidad al desarrollo de dm2. Adem\u00e1s, el polimorfismo estudiado de tnfa, mostr\u00f3 diferencias entre los pacientes con dm1 y con dm2, por lo que esta variante constituye un marcador de diferenciaci\u00f3n entre ambos tipos de diabetes en la poblaci\u00f3n estudiada.  El estudio por haplotipos mostr\u00f3 que los haplotipos ccga y ctca, formandos por los polimorfismos estudiados de los genes il1b, cd40 o il8 respectivamente, il6 y tnfa se asocian al desarrollo de dm1 aumentando el riesgo de 4 a 14 veces respectivamente, mientras que el  haplotipo tg, compuesto por los polimorfismos estudiados de los genes il4 e il4r se asocia al desarrollo de dm2, confiriendo un riesgo hasta 2 veces superior. Tambi\u00e9n encontramos que el haplotipo ct de los polimorfismos estudiados de los genes pparg y tcf7l2, se asocian tanto al desarrollo de dm1 como de dm2. Por otro lado, en el estudio de genes hnf4a, gck y hnf1a encontramos  8 mutaciones patog\u00e9nicas, 5 de ellas no descritas como son las mutaciones p.R131x en hnf4a, p.Q337x y p.F316sfsx36 en gck y p.T137sfsx17 y p.K205n en hnf1a. Adem\u00e1s, localizamos dos nuevos tr\u00e1nscritos del gen hnf1a no descritos, hnf1a\u00c2\u00bf2 y hnf1ainsivs8. La caracterizaci\u00f3n funcional de la mutaci\u00f3n p.K205n del gen hnf1a as\u00ed como de las dos nuevas isoformas mostr\u00f3 que tanto la presencia de la mutaci\u00f3n k205n,  como la isoforma hnf1a\u00c2\u00bf2 muestran una disminuci\u00f3n de su actividad, mientras que la isoforma hnf1a insivs8 presenta una actividad superior en relaci\u00f3n con la prote\u00edna silvestre, lo que abre la puerta a su utilizaci\u00f3n como posible diana terap\u00e9utica en el tratamiento de la diabetes.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio gen\u00e9tico de diabetes en la poblaci\u00f3n de castilla y le\u00f3n<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio gen\u00e9tico de diabetes en la poblaci\u00f3n de castilla y le\u00f3n <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Elena Gonzalez Ruano <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Salamanca<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 10\/06\/2010<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Rogelio Gonzalez Sarmiento<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  jose Corrales hernandez <\/li>\n<li>daniel Antonio De Luis rom\u00e1n (vocal)<\/li>\n<li>Juan  Jos\u00e9 Teller\u00eda orriols (vocal)<\/li>\n<li>Luis felipe Pallardo sanchez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Elena Gonzalez Ruano El estudio de caracterizaci\u00f3n de variantes al\u00e9licas asociadas al desarrollo de diabetes mostr\u00f3 que [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"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":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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