{"id":99638,"date":"2010-10-03T00:00:00","date_gmt":"2010-10-03T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-funcional-de-la-enzima-hmg-coa-sintasa-mitocondrial-nuevo-metodo-de-expresion-y-ensayo-enzimatico\/"},"modified":"2010-10-03T00:00:00","modified_gmt":"2010-10-03T00:00:00","slug":"estudio-funcional-de-la-enzima-hmg-coa-sintasa-mitocondrial-nuevo-metodo-de-expresion-y-ensayo-enzimatico","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/zaragoza\/estudio-funcional-de-la-enzima-hmg-coa-sintasa-mitocondrial-nuevo-metodo-de-expresion-y-ensayo-enzimatico\/","title":{"rendered":"Estudio funcional de la enzima hmg-coa sintasa mitocondrial. nuevo m\u00e9todo de expresi\u00f3n y ensayo enzim\u00e1tico"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Monica Ramos Alvarez <\/strong><\/h2>\n<p>La hmg-coa sintasa mitocondrial humana (mhs), es la enzima llave de la s\u00edntesis de cuerpos cet\u00f3nicos. Su deficiencia (omim 600234) da lugar a una enfermedad rara, de la que tan solo se han descrito 8 pacientes en todo el mundo. Su dificultad diagn\u00f3stica esta relacionada con una cl\u00ednica poco espec\u00edfica, la ausencia de biomarcadores y los problemas de expresi\u00f3n y medici\u00f3n de actividad de la enzima. Por ello, el objetivo fundamental de este trabajo ha sido la puesta a punto de un m\u00e9todo de sobreexpresi\u00f3n de la prote\u00edna mhs humana, que permitiese obtenerla en elevada cantidad, de forma estable y con un alto grado de pureza. A partir de esta prote\u00edna recombinante se ha medido la actividad de la enzima mediante un ensayo puesto a punto en nuestro laboratorio. Esto ha permitido un estudio funcional de las variantes al\u00e9licas missense conocidas. Adem\u00e1s, se ha caracterizado un nuevo paciente con dos mutaciones: una nonsense que da lugar a una prote\u00edna truncada con 85 amino\u00e1cidos menos, y otra misssense que codifica una prote\u00edna inestable. Tambi\u00e9n se ha estudiado el efecto de la dimerizaci\u00f3n sobre la funci\u00f3n de la enzima, demostrando que el impedimento de interacci\u00f3n entre los dos mon\u00ed\u00b2meros que la componen da lugar a su inactivaci\u00f3n. Por \u00faltimo, se ha caracterizado una variante fisiol\u00f3gica de splicing del gen hmgcs2 con deleci\u00f3n del ex\u00f3n 4, que genera una prote\u00edna afuncional e inestable. Esta variante se ha detectado en elevada proporci\u00f3n en tejidos consumidores de cuerpos cet\u00f3nicos como m\u00fasculo esquel\u00e9tico y coraz\u00f3n, sugiri\u00e9ndose que act\u00faa en ellos como una forma de regulaci\u00f3n negativa de la expresi\u00f3n de la enzima.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio funcional de la enzima hmg-coa sintasa mitocondrial. nuevo m\u00e9todo de expresi\u00f3n y ensayo enzim\u00e1tico<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio funcional de la enzima hmg-coa sintasa mitocondrial. nuevo m\u00e9todo de expresi\u00f3n y ensayo enzim\u00e1tico <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Monica Ramos Alvarez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Zaragoza<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 10\/03\/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>Juan Pie Juste<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: fausto Garcia hegardt <\/li>\n<li>n\u00faria Casals farr\u00e9 (vocal)<\/li>\n<li>armando Giner soria (vocal)<\/li>\n<li>paulino Gomez puertas (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Monica Ramos Alvarez La hmg-coa sintasa mitocondrial humana (mhs), es la enzima llave de la s\u00edntesis de [&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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