{"id":101722,"date":"2018-03-11T10:23:38","date_gmt":"2018-03-11T10:23:38","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/aspectos-bioqua%c2%admicos-y-moleculares-de-las-deficiencias-de-complejo-1-mitocondrialligadas-al-cromosoma-x\/"},"modified":"2018-03-11T10:23:38","modified_gmt":"2018-03-11T10:23:38","slug":"aspectos-bioqua%c2%admicos-y-moleculares-de-las-deficiencias-de-complejo-1-mitocondrialligadas-al-cromosoma-x","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/aspectos-bioqua%c2%admicos-y-moleculares-de-las-deficiencias-de-complejo-1-mitocondrialligadas-al-cromosoma-x\/","title":{"rendered":"Aspectos bioqu\u00edmicos y moleculares de las deficiencias de complejo 1 mitocondrial,ligadas al cromosoma x."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Daniel Fernandez Moreira <\/strong><\/h2>\n<p>Objetivo. La deficiencia de complejo i, es el defecto de cadena respiratoria mitocondrial m\u00e1s habitualmente diagnosticado, siendo adem\u00e1s muy heterog\u00e9neo, gen\u00e9ticamente hablando. La mayor preValencia observada previamente en pacientes varones, parecer \u00eda sugestivo de un defecto gen\u00e9tico ligado al cromosoma x. Se investigaron mutaciones en los genes ligados al cromosoma x, de complejo i, ndufa1 y ndufb11, como posible nueva causa de encefalomiopat\u00edas mitocondriales. material y m\u00e9todos. Se secuencia ron 12 genes nucleares de complejo i, as\u00ed como el adn mitocondrial en 26 pacientes  de complejo i mitocondrial. Las nuevas mutaciones encontradas se confirmaron mediante la t\u00e9cnica de pcr-rflp. Los estudios de estabilidad\/ ensamblaje de complejo i se  realizaron en fibroblastos de los pacientes, mediante las t\u00e9cnicas de \u00c2\u00bfblue native gel electrophoresis\u00c2\u00bf. resultados. Se identificaron 2 nuevas mutaciones en hemicigosis, p.Gly8arg y p.Arg37ser, en el gen ndufa1, en 2 pacientes, el primero con un cua dro de s\u00edndrome de leigh, y el segundo con epilepsia miocl\u00f3nica y retraso en el desarrollo. Se demostr\u00f3, mediante t\u00e9cnicas de \u00c2\u00bf2d- blue native gel electrophoresis\u00c2\u00bf, niveles disminuidos de complejo i totalmente ensamblado, sin acumulaci\u00f3n de subcomple jos, indicando que bien el ensamblaje, la estabilidad o ambos, pudieran estar afectados para el complejo i mitocondrial. discusi\u00f3n. Las mutaciones observadas en el gen ndufa1 dan lugar a un d\u00e9ficit de complejo i y encefalomiopat\u00eda. El an\u00e1lisis de los  procesos de ensamblaje\/ estabilidad podr\u00eda proporcionar una explicaci\u00f3n al porqu\u00e9 de los diferentes fenotipos cl\u00ednicos, pudiendo convertirse, en un futuro, en una herramienta \u00fatil con fines diagn\u00f3sticos.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Aspectos bioqu\u00edmicos y moleculares de las deficiencias de complejo 1 mitocondrial,ligadas al cromosoma x.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Aspectos bioqu\u00edmicos y moleculares de las deficiencias de complejo 1 mitocondrial,ligadas al cromosoma x. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Daniel Fernandez Moreira <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/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>Joaquin Arenas Barbero<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rafael Enr\u00edquez de salamanca lorente <\/li>\n<li>Francisco Javier Arpa gutierrez (vocal)<\/li>\n<li>antoni lLuis Andreu periz (vocal)<\/li>\n<li>Rafael Garesse alarc\u00f3n (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Daniel Fernandez Moreira Objetivo. La deficiencia de complejo i, es el defecto de cadena respiratoria mitocondrial m\u00e1s [&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":[63896,206629,201170,24370,7556,7832],"class_list":["post-101722","post","type-post","status-publish","format-standard","hentry","category-sin-categoria","tag-antoni-lluis-andreu-periz","tag-daniel-fernandez-moreira","tag-francisco-javier-arpa-gutierrez","tag-joaquin-arenas-barbero","tag-rafael-enriquez-de-salamanca-lorente","tag-rafael-garesse-alarcon"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/101722","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=101722"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/101722\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=101722"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=101722"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=101722"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}