{"id":67702,"date":"2018-03-09T22:56:07","date_gmt":"2018-03-09T22:56:07","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/insomnio-letal-familiar-en-el-pais-vasco-busqueda-del-efecto-fundador-de-la-mutacion-d178n-129m-y-efectos-del-estres-oxidativo-en-muestras-retrospectivas\/"},"modified":"2018-03-09T22:56:07","modified_gmt":"2018-03-09T22:56:07","slug":"insomnio-letal-familiar-en-el-pais-vasco-busqueda-del-efecto-fundador-de-la-mutacion-d178n-129m-y-efectos-del-estres-oxidativo-en-muestras-retrospectivas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica-humana\/insomnio-letal-familiar-en-el-pais-vasco-busqueda-del-efecto-fundador-de-la-mutacion-d178n-129m-y-efectos-del-estres-oxidativo-en-muestras-retrospectivas\/","title":{"rendered":"Insomnio letal familiar en el pais vasco: busqueda del efecto fundador de la mutacion d178n(-129m) y efectos del estres oxidativo en muestras retrospectivas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ana Belen Rodriguez Martinez <\/strong><\/h2>\n<p>Las enfermedades pri\u00f3nicas, tambi\u00e9n conocidas como encefalopat\u00edas espongiformes transmisibles, son un conjunto de des\u00f3rdenes neurodegenerativos que afectan al sistema nervioso central. Estas enfermedades han sido descritas tanto en humanos como en animales y son clasificadas como enfermedades raras debido a su baja incidencia. El alto poder infeccioso y transmisible de su agente causal, el pri\u00f3n o part\u00edcula proteica infectiva (prpsc), hacen de especial inter\u00e9s el estudio de estas enfermedades. la hip\u00f3tesis m\u00e1s aceptada sobre el origen del pri\u00f3n es que es una isoforma an\u00f3mala de la prote\u00edna celular normal (prpc) la cual est\u00e1 codificada por el gen prnp localizado en el brazo corto del cromosoma 20 del genoma humano. Dentro de las enfermedades pri\u00f3nicas, se encuentra la denominada insomnio letal familiar (ilf) de etiolog\u00eda gen\u00e9tica y cuya incidencia en la comunidad aut\u00f3noma del pa\u00eds vasco es significativamente superior a la descrita en otras comunidades aut\u00f3nomas de espa\u00f1a. el presente trabajo de tesis doctoral consta de cinco estudios centrados en aspectos moleculares del insomnio letal familiar (ilf) a trav\u00e9s de los cuales tratamos de: 1) explicar a qu\u00e9 es debida la alta incidencia de ilf en el pa\u00eds vasco, 2) estudiar el origen de la mutaci\u00f3n d178n(-129m) que lo causa y 3) investigar la relaci\u00f3n de este desorden neurodegenerativo con el estr\u00e9s oxidativo mediante el estudio del adn mitocondrial.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Insomnio letal familiar en el pais vasco: busqueda del efecto fundador de la mutacion d178n(-129m) y efectos del estres oxidativo en muestras retrospectivas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Insomnio letal familiar en el pais vasco: busqueda del efecto fundador de la mutacion d178n(-129m) y efectos del estres oxidativo en muestras retrospectivas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ana Belen Rodriguez Martinez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/10\/2008<\/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>Mar\u00eda  De Los Angeles Martinez De Pancorbo Gomez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Luis Velayos Jorge <\/li>\n<li>christian Barreau (vocal)<\/li>\n<li>isidro Ferrer abizanda (vocal)<\/li>\n<li>Jos\u00e9 Miguel Polo esteban (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ana Belen Rodriguez Martinez Las enfermedades pri\u00f3nicas, tambi\u00e9n conocidas como encefalopat\u00edas espongiformes transmisibles, son un conjunto 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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