{"id":55237,"date":"2018-03-09T22:42:58","date_gmt":"2018-03-09T22:42:58","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-genetica-estructural-economica-y-metabolica-de-un-deficit-de-fosfoglicerato-quinasa-que-cursa-con-anemia-hemola%c2%adtica\/"},"modified":"2018-03-09T22:42:58","modified_gmt":"2018-03-09T22:42:58","slug":"caracterizacion-genetica-estructural-economica-y-metabolica-de-un-deficit-de-fosfoglicerato-quinasa-que-cursa-con-anemia-hemola%c2%adtica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/bioquimica\/caracterizacion-genetica-estructural-economica-y-metabolica-de-un-deficit-de-fosfoglicerato-quinasa-que-cursa-con-anemia-hemola%c2%adtica\/","title":{"rendered":"Caracterizaci\u00f3n gen\u00e9tica, estructural, econ\u00f3mica y metab\u00f3lica de un d\u00e9ficit de fosfoglicerato quinasa que cursa con anemia hemol\u00edtica"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Ram\u00edrez Bajo M. Jos\u00e9 <\/strong><\/h2>\n<p>El trabajo de esta tesis se centra en la caracterizaci\u00f3n gen\u00e9tica, enzim\u00e1tica, estructural, enzim\u00e1tica y metab\u00f3lica de un d\u00e9ficit de fosfoglicerato quinasa que cursa con anemia hemol\u00edtica. Para ello se secuenci\u00f3 todo el gen de la pgk-1 encontr\u00e1ndose una \u00fanica mutaci\u00f3n en el ex\u00f3n 3 (46ile &#8211; asn). al tratarse de un ni\u00f1o de corta edad y debido a la escasez de muestra, se procedi\u00f3 al clonaje de la enzima normal y mutada. Una vez conocida la mutaci\u00f3n, se hizo el modelaje estructural, concluy\u00e9ndose que s\u00f3lo se ve\u00eda alterada la estabilidad del enzima. La caracterizaci\u00f3n enzim\u00e1tica se centr\u00f3 en estudios de valores de km, ph \u00f3ptimos, efectos inhibitorios, termoestabilidad y movilidad electrofor\u00e9tica de hemolizados y clones, concluy\u00e9ndose que todas estas caracter\u00edsticas s\u00f3lo se observaba una disminuci\u00f3n de la estabilidad del enzima mutado, siendo el resto normal. A nivel de alteraci\u00f3n metab\u00f3lica se determinaron los niveles de los intermediarios metab\u00f3licos de la gluc\u00f3lisis y delos nucle\u00f3tidos aden\u00edlicos, observ\u00e1ndose s\u00f3lo un aumento de los niveles de 2,3 bpg y una disminuci\u00f3n de los de atp. Como conclusi\u00f3n general de la tesis, la deficiencia enzim\u00e1tica es debida a una \u00fanica mutaci\u00f3n (46ile-asn) que disminuye la estabilidad del enzima bajando los niveles de actividad y causando un aumento de 2,3 bpg y una disminuci\u00f3n de atp eritrocitaria, que dar\u00edan lugar a la hem\u00f3lisis causante de la anemia.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n gen\u00e9tica, estructural, econ\u00f3mica y metab\u00f3lica de un d\u00e9ficit de fosfoglicerato quinasa que cursa con anemia hemol\u00edtica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n gen\u00e9tica, estructural, econ\u00f3mica y metab\u00f3lica de un d\u00e9ficit de fosfoglicerato quinasa que cursa con anemia hemol\u00edtica <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Ram\u00edrez Bajo M. Jos\u00e9 <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/10\/2006<\/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>Jos\u00e9 Carreras Barn\u00e9s<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Antonio Cortes tejedor <\/li>\n<li>francesc Gonz\u00e1lez sastre (vocal)<\/li>\n<li>dolors Colomer (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ram\u00edrez Bajo M. Jos\u00e9 El trabajo de esta tesis se centra en la caracterizaci\u00f3n gen\u00e9tica, enzim\u00e1tica, estructural, [&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],"tags":[50598,122035,13646,14,122034],"class_list":["post-55237","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-bioquimica","tag-antonio-cortes-tejedor","tag-dolors-colomer","tag-francesc-gonzalez-sastre","tag-jose-carreras-barnes","tag-ramirez-bajo-m-jose"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/55237","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=55237"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/55237\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=55237"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=55237"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=55237"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}