{"id":16193,"date":"2018-03-09T09:03:41","date_gmt":"2018-03-09T09:03:41","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-molecular-de-genes-implicados-en-el-sa%c2%adndrome-de-down\/"},"modified":"2018-03-09T09:03:41","modified_gmt":"2018-03-09T09:03:41","slug":"analisis-molecular-de-genes-implicados-en-el-sa%c2%adndrome-de-down","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/analisis-molecular-de-genes-implicados-en-el-sa%c2%adndrome-de-down\/","title":{"rendered":"Analisis molecular de genes implicados en el s\u00edndrome de down"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Francisca S\u00e1nchez-font M. <\/strong><\/h2>\n<p>El s\u00edndrome de down (sd) consecuencia de la trisomia del cromosoma 21, es la principal causa de retraso mental en humanos. El fenotipo sd es muy complejo y variable. La causa principal de esta variabilidad es el elevado n\u00famero de genes implicados en esta patolog\u00eda, no solo los situados en el cromosoma 21, sino tambi\u00e9n aquellos genes situados en otros cromosomas pero regulados directa o indirectamente por genes del cromosoma 21.  en esta tesis se ha analizado la expresi\u00f3n diferencial en cerebro fetal down. Mediante hibridaci\u00f3n substractiva supresora (ssh) se ha identificado el gen prdx2 (peroxiredoxina2) como un gen putativamente subexpresado en individuos down y el gen fabp7 (prote\u00edna de uni\u00f3n de \u00e1cidos grasos en el cerebro) como un gen putativamente sobreexpresado en individuos down.  con el objetivo de analizar el efecto de la subexpresi\u00f3n de prdx2 a nivel celular se han trasfectado c\u00e9lulas de neurobastoma con un cdna antisentido de prdx2. La subexpresi\u00f3n de este gen en cultivos celulares ha resultado en una disminuci\u00f3n de la variabilidad celular y un incremento en la muerte celular programada o apoptosis via caspasa-3, en condiciones basales y en presencia de diversos agentes citotoxicos oxidativos. Estos resultados apuntan hacia la posible implicaci\u00f3n de prdx2 en el estr\u00e9s oxidativo neuronal asociado al fenotipo sd.  por otro lado, la sobrexpresi\u00f3n de fabp7 en cerebros fetales down ha podido ser relacionada con el efecto de dosi del gen pknox1 (localizado en el cromosoma 21), consecuencia directa de la trisomia del cromosoma 21. En esta tesis se ha demostrado la capacidad de la prote\u00edna pknox1 de interacionar con el dominio pbx\/pou de la regi\u00f3n promotora de fabp7 y incrementar su transcripci\u00f3n. La importancia de fabp7 en la formaci\u00f3n del sistema radial de fibras gliales, necesario para la correcta migraci\u00f3n de las neuronas inmaduras hacia capas corticales del cerebro, podr\u00eda ser indicativa de la posible implic<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis molecular de genes implicados en el s\u00edndrome de down<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis molecular de genes implicados en el s\u00edndrome de down <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Francisca S\u00e1nchez-font M. <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 22\/03\/2002<\/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>Roser Gonzalez Duarte<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: lLuisa Vilageliu arqu\u00e9s <\/li>\n<li>damian Heine su\u00f1er (vocal)<\/li>\n<li>misericordia Ramon janpere (vocal)<\/li>\n<li>neus Cols coll (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Francisca S\u00e1nchez-font M. El s\u00edndrome de down (sd) consecuencia de la trisomia del cromosoma 21, es la [&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":[951,35,962,15231],"tags":[51280,51278,51279,51281,51282,11379],"class_list":["post-16193","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-ciencias-de-la-vida","category-genetica","category-genetica-molecular","tag-damian-heine-suner","tag-francisca-sanchez-font-m","tag-lluisa-vilageliu-arques","tag-misericordia-ramon-janpere","tag-neus-cols-coll","tag-roser-gonzalez-duarte"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/16193","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=16193"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/16193\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=16193"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=16193"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=16193"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}