{"id":84878,"date":"2000-07-06T00:00:00","date_gmt":"2000-07-06T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/factores-geneticos-asociados-a-la-enfermedad-de-alzheimer-en-la-poblacion-espanola\/"},"modified":"2000-07-06T00:00:00","modified_gmt":"2000-07-06T00:00:00","slug":"factores-geneticos-asociados-a-la-enfermedad-de-alzheimer-en-la-poblacion-espanola","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/factores-geneticos-asociados-a-la-enfermedad-de-alzheimer-en-la-poblacion-espanola\/","title":{"rendered":"Factores geneticos asociados a la enfermedad de alzheimer en la poblacion espa\u00f1ola"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Mario Ezquerra Trabalon <\/strong><\/h2>\n<p>Se determin\u00f3 la incidencia de las mutaciones en los genes de las presenilinas 1 y 2(psi y ps2) sobre la enfermedad de alzheimer (ea) en la poblacion espa\u00f1ola. Como resultado, se encontraron diversas mutaciones en dichos genes, asociados a la aparici\u00f3n de ea familiar y presenil. En el gen ps1 se encontraron las mutaciones ser169pro, leu166arg, val89leu, met139thr, his163arg y leu282arg, dando una incidencia del 23% de dichos casos de ea. En el gen ps2 se encontraron las mutaciones nuevas pro38ala, thr153ser y thr430met, dando la incidencia de mutaciones mas alta encontrada en las diversas poblaciones estudiadas (11,5%). Adicionalmente las mutaciones thr153ser y thr430met llevaban asociadas un fenotipo clinico y de neuroimagen que solapaba caracteristicas de ea con otras porpias de la demencia frontotemporal.  adem\u00e1s, se analizaron una serie de posibles factores geneticos de riesgo para la ea, tales como polimorfismos en los genes de tau, antiquimotripsina, y ps1. Finalmente se realiz\u00f3 un estudio para determinar el riesgo relativo a padecer la ea conferido por los diferentes genotipos del gen apoe.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Factores geneticos asociados a la enfermedad de alzheimer en la poblacion espa\u00f1ola<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Factores geneticos asociados a la enfermedad de alzheimer en la poblacion espa\u00f1ola <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Mario Ezquerra Trabalon <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 07\/06\/2000<\/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>Rafael Oliva Virgili<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Venciana Grau <\/li>\n<li>Mar\u00eda  Teresa Gomez Isla (vocal)<\/li>\n<li>Daniel Grinberg Vaisman (vocal)<\/li>\n<li>Montse Maiset (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mario Ezquerra Trabalon Se determin\u00f3 la incidencia de las mutaciones en los genes de las presenilinas 1 [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[951,160,115,35,17],"tags":[42605,29808,179051,179053,29142,179052],"class_list":["post-84878","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-bioquimica","category-bioquimica-molecular","category-ciencias-de-la-vida","category-quimica","tag-daniel-grinberg-vaisman","tag-maria-teresa-gomez-isla","tag-mario-ezquerra-trabalon","tag-montse-maiset","tag-rafael-oliva-virgili","tag-venciana-grau"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/84878","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=84878"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/84878\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=84878"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=84878"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=84878"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}