{"id":77071,"date":"2005-08-11T00:00:00","date_gmt":"2005-08-11T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-genetico-y-funcional-de-la-frataxina-y-otras-protea%c2%adnas-mitocondriales-relacionadas-con-ataxias-cerebelosas\/"},"modified":"2005-08-11T00:00:00","modified_gmt":"2005-08-11T00:00:00","slug":"analisis-genetico-y-funcional-de-la-frataxina-y-otras-protea%c2%adnas-mitocondriales-relacionadas-con-ataxias-cerebelosas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/analisis-genetico-y-funcional-de-la-frataxina-y-otras-protea%c2%adnas-mitocondriales-relacionadas-con-ataxias-cerebelosas\/","title":{"rendered":"\u00aban\u00e1lisis gen\u00e9tico y funcional de la frataxina y otras prote\u00ednas mitocondriales relacionadas con ataxias cerebelosas\u00bb"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Mar\u00eda Pilar Gonz\u00e1lez Cabo <\/strong><\/h2>\n<p>El deficit de frataxina es la causa principal de la ataxia de friedreich, una enfermedad neurodegenerativa autos6mica recesiva. La funci\u00f3n de la frataxina todavia no se conoce. En este trabajo nosotros mostramos que yfh1p, el ort\u00f3logo de frataxina de saccharomyces cerevisiae, interacciona fisicamente con succinato deshidrogenasa, concretamente con las subunidades sdh1 p y sdh2p, de la cadena de transporte electr\u00f3nico mitocondrial de levadura, y tambien con las subunidades etf(l y etfj: de la flavoproteina transferidora de electrones experimentos geneticos de interacci\u00f3n sintetica han confirmado una relaci\u00f3n funcional entre el gen yfh1 y los genes de succinato deshidrogenasa sdh1 y sdh2 tambi\u00e9n hemos demostrado una interacci\u00f3n fisica entre la frataxina humana y las subunidades de la succinato deshidrogenasa humana, sugiriendo que frataxina tiene un papel en la cadena de transporte electr\u00f3nico mitocondrial en humanos. Por lo tanto, sugerimos una participaci\u00f3n directa de la cadenarespiratoria en la patog\u00e9nesis de la ataxia de friedreich, la cual proponemos que se puede considerar como una enfermedad oxphos.Desde el descubrimiento de la frataxina y su localizacipn como molecula de la matriz mitocondrial, la ataxia de friedreich se ha convertido en el prototipo de enfermedad mitocondrial causada por un gen nuclear no obstante, no es la unica ataxia que se puede considerar como mitocondrial. Otro ejemplo es la anemia sideroblastica ligada al x asociada con ataxia cerebelosa (xlsa\/a), causada por mutaciones en el gen del transportador mitocondrial abc7. Esta enfermedad esta directamente relacionada con la homeostasis del hierro, al igual que la ataxia de friedreich. Realizamos el aislamiento y caracterizaci6n del gen hom\u00f3logo del abc7 en caenorhabditis efegans y posteriormente la generaci6n de un mutante transitorio, que presenta el siguiente fenotipo. Letalidad embrionaria (emb), retraso en el crecimiento (gro), reducci\u00f3n en la puest<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>\u00aban\u00e1lisis gen\u00e9tico y funcional de la frataxina y otras prote\u00ednas mitocondriales relacionadas con ataxias cerebelosas\u00bb<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 \u00aban\u00e1lisis gen\u00e9tico y funcional de la frataxina y otras prote\u00ednas mitocondriales relacionadas con ataxias cerebelosas\u00bb <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Mar\u00eda Pilar Gonz\u00e1lez Cabo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Universitat de val\u00e9ncia (estudi general)<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 08\/11\/2005<\/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>Francesc Palau Mart\u00ednez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: julio Montoya villarroya <\/li>\n<li>Mar\u00eda  dolores Molto ruiz (vocal)<\/li>\n<li>joaquin Arenas barbero (vocal)<\/li>\n<li> Rodr\u00edguez aguilera Juan  Carlos (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mar\u00eda Pilar Gonz\u00e1lez Cabo El deficit de frataxina es la causa principal de la ataxia de friedreich, [&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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