{"id":42692,"date":"1999-04-02T00:00:00","date_gmt":"1999-04-02T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudios-metabolicos-y-de-biologia-molecular-en-el-diagnostico-diferencial-de-las-deficiencias-de-la-beta-oxidacion-mitocondrial\/"},"modified":"1999-04-02T00:00:00","modified_gmt":"1999-04-02T00:00:00","slug":"estudios-metabolicos-y-de-biologia-molecular-en-el-diagnostico-diferencial-de-las-deficiencias-de-la-beta-oxidacion-mitocondrial","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/estudios-metabolicos-y-de-biologia-molecular-en-el-diagnostico-diferencial-de-las-deficiencias-de-la-beta-oxidacion-mitocondrial\/","title":{"rendered":"Estudios metabolicos y de biolog\u00eda molecular en el diagnostico diferencial de las deficiencias de la beta-oxidaci\u00f3n mitocondrial"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Mart\u00ednez Rubio M. Gemma <\/strong><\/h2>\n<p>El presente estudio ha consistido por un lado, en conocer la incidencia en la poblaci\u00f3n espa\u00f1ola de la deficiencia de la beta-oxidaci\u00f3n mitocondrial m\u00e1s frecuentemente descrita (deficiencia de acil-coa deshidrogenasa de cadena media, mcad) y por otro lado, en desarrollar una herramienta r\u00e1pida y eficaz para el diagn\u00f3stico de estas enfermedades.  la innovaci\u00f3n tecnol\u00f3gica en la metodolog\u00eda para el estudio del perfil de los \u00e1cidos grasos libres en plasma nos ha permitido poder diagnosticar las deficiencias de acil-coa deshidrogenasa de cada media (mcad), de cadena muy larga (vlcad), 3-hidroxiacil-coa deshidrogenasa de cadena larga (lchad) y la deficiencia m\u00faltiple de deshidrogenasas mad.  el estudio en la poblaci\u00f3n espa\u00f1ola de la mutaci\u00f3n prevalente 985a-g del gen mcad nos ha permitido constatar que la baja frecuencia observada para el alelo g985 justifica el menor n\u00famero de pacientes diagnosticados respecto a los pa\u00edses del norte y noroeste europeos. La baja o pr\u00e1cticamente inexistente frecuencia encontrada en el pais vasco, junto con la extremadamente alta frecuencia observada en la poblaci\u00f3n de etnia gitana analizada refuerzan la hip\u00f3tesis seg\u00fan la cual esta mutaci\u00f3n tuvo lugar fuera de europa y fue transportada al continente europeo a trav\u00e9s de los individuos de habla indo-europea durante el periodo neol\u00edtico o posteriormente.  la estandarizaci\u00f3n de la detecci\u00f3n de la mutaci\u00f3n 1526g-c del gen lchad, a partir de muestras de sangre impregnada en papel de filtro, nos ha permitido corroborar la alta preValencia descrita para esta mutaci\u00f3n.  el estudio del polimorfismo 625g-a del gen acil-coa deshidrogenasa de cadena corta scad en pacientes con acidur\u00eda etilmal\u00f3nica, nos ha permitido confirmar que el alelo g625 tienen una implicaci\u00f3n directa en el desarrollo de la aciduria etilmal\u00f3nica y que puede ser considerado como un alelo de susceptibilidad.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudios metabolicos y de biolog\u00eda molecular en el diagnostico diferencial de las deficiencias de la beta-oxidaci\u00f3n mitocondrial<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudios metabolicos y de biolog\u00eda molecular en el diagnostico diferencial de las deficiencias de la beta-oxidaci\u00f3n mitocondrial <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Mart\u00ednez Rubio M. Gemma <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 04\/02\/1999<\/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>Antonia Ribes Rubi\u00f3<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rafael Jimenez gonzalez <\/li>\n<li>m\u00c2\u00ba antonia Vilaseca busca (vocal)<\/li>\n<li>paz Briones godino (vocal)<\/li>\n<li>Francisco Blanco vaca (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mart\u00ednez Rubio M. Gemma El presente estudio ha consistido por un lado, en conocer la incidencia en [&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":[160,940,17,3665],"tags":[42657,29287,107098,64792,107099,1201],"class_list":["post-42692","post","type-post","status-publish","format-standard","hentry","category-bioquimica","category-genetica-bioquimica","category-quimica","category-quimica-clinica","tag-antonia-ribes-rubio","tag-francisco-blanco-vaca","tag-Martinez-rubio-m-gemma","tag-mao-antonia-vilaseca-busca","tag-paz-briones-godino","tag-rafael-jimenez-gonzalez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/42692","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=42692"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/42692\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=42692"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=42692"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=42692"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}