{"id":81818,"date":"2018-03-10T00:05:45","date_gmt":"2018-03-10T00:05:45","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-molecular-del-gen-pccb-analisis-y-expresion-de-mutaciones-cusantes-de-acidemia-propionica\/"},"modified":"2018-03-10T00:05:45","modified_gmt":"2018-03-10T00:05:45","slug":"caracterizacion-molecular-del-gen-pccb-analisis-y-expresion-de-mutaciones-cusantes-de-acidemia-propionica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/caracterizacion-molecular-del-gen-pccb-analisis-y-expresion-de-mutaciones-cusantes-de-acidemia-propionica\/","title":{"rendered":"Caracterizaci\u00f3n molecular del gen pccb. an\u00e1lisis y expresi\u00f3n de mutaciones cusantes de acidemia propi\u00f3nica."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Silvia Muro Galindo <\/strong><\/h2>\n<p>La acidemia propi\u00f3nica, uno de los errores cong\u00e9nitos m\u00e1s frecuentes del metabolismo de \u00e1cidos org\u00e1nicos en humanos, est\u00e1 causada por la deficiencia del enzima mitocondrial propionil-coa carboxilasa. \u00e9ste es un exnima heteropolim\u00e9rico, estando constituido por dos tipos de subuniddes diferenes, a-y b-pcc, codificadas por los genes pcca y pccb respectivamente.  en este trabajo se ha abordado el estudido de las bases moleculares de esta enfermedad, caracerizando, en primer lugar, la estrucutra del gen pccb, en su regi\u00f3n codificante, indentific\u00e1ndose los l\u00edmites entre los diferentes exones e intrones y permitiendo el dise\u00f1o de oligonucle\u00f3tidos intr\u00f3nicos facilitando as\u00ed el an\u00e1lisis gen\u00e9tico de los pacientes. El estudio mutacional realizado ha permitido la indentificaic\u00f3n de un total de 25 mutaciones diferentes entre los 47 pacientes analizados, lo que supone el 98% de los 80 alelos independientes estudiados, 21 de las cuales son mutaciones nuevas, no descritas anteriormente.  asimismo, se ha llevado a cabo la caracterizaic\u00f3n del efecto de las mutaciones identificadas utilizando diferentes aproximaciones experimentales. los ensayos de northern y western blot han permitido conocer el efecto de estos cambios sobre el mrna y prote\u00edna b-pcc habi\u00e9ndose estudiado, adicionalmente la s\u00edntesis y estabiliad in vitro de p\u00e9ptidos mutantes, su afectaci\u00f3n sobre los procesos de importaci\u00f3 ny procesamiento intramitocondrial, plegamiento y ensemblaje de las subunidades b-ppc.  por \u00faltimo, los datos experimentales, junto con la informaci\u00f3n obtenida acerca del diagn\u00f3stico, cl\u00ednica y seguimiento de estos pacientes, han permitido analizar la asociaci\u00f3n entre la naturaleza de los cambios encontrados y la severidad de la enfermedad, lo que revela una clara asociaci\u00f3n de ciertas mutaciones con fenotipos severos, mientras que otras est\u00e1na sociadas a una sintomatolog\u00eda m\u00e1s suave.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n molecular del gen pccb. an\u00e1lisis y expresi\u00f3n de mutaciones cusantes de acidemia propi\u00f3nica.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n molecular del gen pccb. an\u00e1lisis y expresi\u00f3n de mutaciones cusantes de acidemia propi\u00f3nica. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Silvia Muro Galindo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/12\/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>Magdalena Ugarte<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Mar\u00eda Median jose <\/li>\n<li>fausto G. hedgart (vocal)<\/li>\n<li>Jos\u00e9 Fernandez piqueras (vocal)<\/li>\n<li>angel Pe\u00f1alva Miguel (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Silvia Muro Galindo La acidemia propi\u00f3nica, uno de los errores cong\u00e9nitos m\u00e1s frecuentes del metabolismo de \u00e1cidos [&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 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