{"id":70308,"date":"2018-03-09T23:14:48","date_gmt":"2018-03-09T23:14:48","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/esclerosis-lateral-amiotrofica-estudios-geneticos-bioqua%c2%admicos-y-celulares-en-pacientes-familiares-y-esporadicos\/"},"modified":"2018-03-09T23:14:48","modified_gmt":"2018-03-09T23:14:48","slug":"esclerosis-lateral-amiotrofica-estudios-geneticos-bioqua%c2%admicos-y-celulares-en-pacientes-familiares-y-esporadicos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/esclerosis-lateral-amiotrofica-estudios-geneticos-bioqua%c2%admicos-y-celulares-en-pacientes-familiares-y-esporadicos\/","title":{"rendered":"Esclerosis lateral amiotr\u00f3fica: estudios gen\u00e9ticos, bioqu\u00edmicos y celulares en pacientes familiares y espor\u00e1dicos"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Alberto Garcia Redondo <\/strong><\/h2>\n<p>En este estudio se realizan dos tipos de an\u00e1lisis. El primero se trata de un estudio gen\u00e9tico del gen que codifica por el enzima citos\u00f3lico sod1 en pacientes con ela espor\u00e1dica (elae) y con ela familiar (elaf). En el segundo se eval\u00faa la funci\u00f3n mitocondrial y el estatus oxidativo de cultivos de fibroblastos procedentes de pacientes y controles.  en el an\u00e1lisis gen\u00e9tico se obtuvieron resultados similares al de otros estudios poblacionales publicados previamente (18,2 % mutaciones en elaf y 1,2 % mutaciones en elae). Se encontraron dos mutaciones previamente no descritas en la prote\u00edna sod1 (n65s e i112m) para las que se describieron metodolog\u00edas aplicables para el an\u00e1lisis gen\u00e9tico en el laboratorio cl\u00ednico.  en la evaluaci\u00f3n de la funci\u00f3n mitocondrial no se hallaron diferencias entre pacientes y controles (actividades de los enzimas de la cadena respiratoria mitocondrial, estatus oxidativo del coenzima q, concentraci\u00f3n de atp intracelular, potencial de membrana mitocondrial y an\u00e1lisis gen\u00e9tico del adn mitocondrial). adem\u00e1s se encontr\u00f3 que el balance oxidativo en fibroblastos procedentes del paciente con la mutaci\u00f3n n65s sod1 se encontraba alterado respecto a los sujetos control (an\u00e1lisis de las actividades de los enzimas antioxidantes, del estado de oxidaci\u00f3n del glutation, de la homeostasis de radicales libres de ox\u00edgeno) concluyendo que existe una ganancia de funci\u00f3n en el mencionado enzima mutante.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Esclerosis lateral amiotr\u00f3fica: estudios gen\u00e9ticos, bioqu\u00edmicos y celulares en pacientes familiares y espor\u00e1dicos<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Esclerosis lateral amiotr\u00f3fica: estudios gen\u00e9ticos, bioqu\u00edmicos y celulares en pacientes familiares y espor\u00e1dicos <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Alberto Garcia Redondo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 24\/09\/2004<\/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>Joaquin Arenas Barbero<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: enrique Bl\u00e1zquez fern\u00e1ndez <\/li>\n<li>rosario Osta pinzolas (vocal)<\/li>\n<li>antoni lLuis Andreu periz (vocal)<\/li>\n<li>jordi Casademont pou (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Alberto Garcia Redondo En este estudio se realizan dos tipos de an\u00e1lisis. El primero se trata de [&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":[1],"tags":[148198,63896,3180,24370,33856,83332],"class_list":["post-70308","post","type-post","status-publish","format-standard","hentry","category-sin-categoria","tag-alberto-garcia-redondo","tag-antoni-lluis-andreu-periz","tag-enrique-blazquez-fernandez","tag-joaquin-arenas-barbero","tag-jordi-casademont-pou","tag-rosario-osta-pinzolas"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/70308","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=70308"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/70308\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=70308"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=70308"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=70308"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}