{"id":94205,"date":"2018-03-11T10:13:50","date_gmt":"2018-03-11T10:13:50","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-funcional-y-clinico-de-la-diabetes-tipo-mody\/"},"modified":"2018-03-11T10:13:50","modified_gmt":"2018-03-11T10:13:50","slug":"estudio-genetico-funcional-y-clinico-de-la-diabetes-tipo-mody","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/endocrinologia\/estudio-genetico-funcional-y-clinico-de-la-diabetes-tipo-mody\/","title":{"rendered":"Estudio genetico, funcional y clinico de la diabetes tipo mody"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Itziar Estalella Bellart <\/strong><\/h2>\n<p>La diabetes mody (maturity-onset diabetes of the young) es un tipo de diabetes monog\u00e9nica asociada mayoritariamente a tres genes (gck, hnf-4\u00c2\u00bf y hnf-1\u00c2\u00bf). En este trabajo se analizan \u00e9stos genes en 94 familias con sospecha cl\u00ednica de mody con el objetivo de buscar las mutaciones causantes de la enfermedad, as\u00ed como analizar las caracter\u00edsticas cl\u00ednicas de los pacientes seg\u00fan el gen mutado. Asimismo se realiza el estudio funcional de varias de las mutaciones con el fin de comprobar si realmente provocan un defecto funcional en la enzima compatible con el desarrollo de la enfermedad.                 observamos que de las 94 familias, 76 presentan mutaci\u00f3n en gck (81%), 8 en hnf-4\u00c2\u00bf (8,5%) y ninguna en hnf-1\u00c2\u00bf, porcentajes similares a los encontrados en otras poblaciones como la checa y la francesa. Esta distribuci\u00f3n parece deberse a un sesgo en el reclutamiento de los pacientes. Encontramos tambi\u00e9n dos mutaciones que parecen tener un efecto fundador en nuestra poblaci\u00f3n. En cuanto al an\u00e1lisis funcional, se realizaron ensayos cin\u00e9ticos en seis mutaciones de gck encontrando un gradiente en la gravedad del defecto provocado por la enzima, aunque despu\u00e9s del an\u00e1lisis de las caracter\u00edsticas cl\u00ednicas en los pacientes portadores, no parece traducirse claramente en una menor a mayor gravedad de la diabetes que sufren.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio genetico, funcional y clinico de la diabetes tipo mody<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio genetico, funcional y clinico de la diabetes tipo mody <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Itziar Estalella Bellart <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 19\/06\/2009<\/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>Luis Antonio Casta\u00f1o Gonz\u00e1lez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Antonio Vazquez garcia <\/li>\n<li>Mar\u00eda adelaida Garc\u00eda gimeno (vocal)<\/li>\n<li>pascual Sanz bigorra (vocal)<\/li>\n<li>Antonio  Luis Cuesta mu\u00f1oz (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Itziar Estalella Bellart La diabetes mody (maturity-onset diabetes of the young) es un tipo de diabetes monog\u00e9nica [&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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