{"id":11114,"date":"2001-05-06T00:00:00","date_gmt":"2001-05-06T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-del-gen-tau-en-la-enfermedad-de-parkinson-en-otros-parkinsonismos-ata%c2%adpicos-y-en-la-demencia-frontotemporal\/"},"modified":"2001-05-06T00:00:00","modified_gmt":"2001-05-06T00:00:00","slug":"analisis-del-gen-tau-en-la-enfermedad-de-parkinson-en-otros-parkinsonismos-ata%c2%adpicos-y-en-la-demencia-frontotemporal","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/analisis-del-gen-tau-en-la-enfermedad-de-parkinson-en-otros-parkinsonismos-ata%c2%adpicos-y-en-la-demencia-frontotemporal\/","title":{"rendered":"An\u00e1lisis del gen tau en la enfermedad de parkinson, en otros parkinsonismos at\u00edpicos y en la demencia frontotemporal"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Pablo Pastor Mu\u00f1oz <\/strong><\/h2>\n<p>Varias enfermedades neurodegenerativas que se caracterizan por el dep\u00f3sito patol\u00f3gico de prote\u00edna tau son denominadas tauopat\u00edas. Las principales tauopat\u00edas son la enfermedad de alzheimer, la enfermedad de pick, la par\u00e1lisis supranuclear progresiva (psp) y la degeneraci\u00f3n c\u00f3rticobasal (dcb). La prote\u00edna tau pertenece a la familia de prote\u00ednas asociadas a microt\u00fabulos que se une sobre todo a la tubulina promoviendo su polimerizaci\u00f3n, y a\u00f1ade una estabilidad adicional al citoesqueleto neuronal. Hay evidencias indirectas de la participaci\u00f3n de la prote\u00edna tau en el proceso neurodegenerativo de la enfermedad de parkinson (ep). Ya que se han asociado polimorfismos del gen tau y mutaciones del mismo con varias tauopat\u00edas espor\u00e1dicas y familiares, hemos procedido a la realizaci\u00f3n de un cribado de mutaciones y de estudios de asocaici\u00f3n con polimorfismos del gen tau en estos pacientes comparados con controles sanos.  hemos detectado una asociaci\u00f3n significativa del genotipo a0\/a0 del polimorfismo intr\u00f3nico del gen tau en pacientes con ep (n=152; p=0,049). esto implica que variaciones en el gen tau pueden conferir un riesgo para presentar ep. Adem\u00e1s hemos detectado una asociaci\u00f3n significativa del genotipo h1\/h1 del gen tau en pacientes con dcb (n=10) comparados con controles (p=0,008).  tambi\u00e9n se encontr\u00f3 una asociaci\u00f3n significativa del haplotipo h1 extendido al promotor en pacientes con psp. Esto implica que la dcb y la psp pueden compartir factores etiopatog\u00e9nicos. En el an\u00e1lisis de marcadores pr\u00f3ximos al gen tau en enfermos con psp (n=45), indicando que cambios en otros genes pr\u00f3ximos al gen tau pueden ser candidatos para conferir un riesgo adicional para presentar la enfermedad. En el cribado de mutaciones del gen tau hemos detectado la mutaci\u00f3n heterocigota p301l, asociada a una demencia frontotemporal familiar con herencia dominante, y la delecci\u00f3n del cod\u00f3n 296 en homocigosis (deln296) asociada a una psp<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis del gen tau en la enfermedad de parkinson, en otros parkinsonismos at\u00edpicos y en la demencia frontotemporal<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis del gen tau en la enfermedad de parkinson, en otros parkinsonismos at\u00edpicos y en la demencia frontotemporal <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Pablo Pastor Mu\u00f1oz <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 05\/06\/2001<\/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>Eduardo Tolosa Sarr\u00f3<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jose Berciano blanco <\/li>\n<li>isidro Ferrer abizanda (vocal)<\/li>\n<li>jordi Perez tur (vocal)<\/li>\n<li> Vidal taboada Jos\u00e9 Manuel (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Pablo Pastor Mu\u00f1oz Varias enfermedades neurodegenerativas que se caracterizan por el dep\u00f3sito patol\u00f3gico de prote\u00edna tau son [&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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