{"id":21240,"date":"2018-03-09T09:10:55","date_gmt":"2018-03-09T09:10:55","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/mutaciones-en-el-dna-mitocondrial-asociadas-a-enfermedades-geneticas-humanas\/"},"modified":"2018-03-09T09:10:55","modified_gmt":"2018-03-09T09:10:55","slug":"mutaciones-en-el-dna-mitocondrial-asociadas-a-enfermedades-geneticas-humanas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/zaragoza\/mutaciones-en-el-dna-mitocondrial-asociadas-a-enfermedades-geneticas-humanas\/","title":{"rendered":"Mutaciones en el dna mitocondrial asociadas a enfermedades gen\u00e9ticas humanas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Abelardo Solano Palacios <\/strong><\/h2>\n<p>El dna mitocondrial humano (dnamt) codifica 13 prote\u00ednas que forman parte de 4 de los 5 complejos de la cadena respiratoria (sistema oxphos) de la mitocondria, as\u00ed como 2 rrnas y 22 trnas necesarios para la traducci\u00f3n y s\u00edntesis de tales prote\u00ednas. Por lo tanto, las enfermedades gen\u00e9ticas mitocondriales tendr\u00e1n su origen en la alteraci\u00f3n de los 37 genes que contienen el dna mitocondrial humano, o bien en cualquier gen nuclear que codifique prote\u00ednas constitutivas de la cadena respiratoria as\u00ed como los elementos necesarios para su transcripci\u00f3n, traducci\u00f3n e importe y modificaci\u00f3n de las prote\u00ednas resultantes dentro del organelo. El trabajo de esta tesis se circunscribe solamente a las enfermedades (gen\u00e9ticas) mitocondriales asociadas a defectos propios del dnamt.  durante el desarrollo del trabajo de tesis, fueron analizadas en forma rutinaria muestras biol\u00f3gicas de aproximadamente 400 individuos (entre pacientes y familiares relacionados por v\u00eda materna), para la b\u00fasqueda de mutaciones puntuales conocidas y delecciones. Tambi\u00e9n se realiz\u00f3 de forma espec\u00edfica, el an\u00e1lisis de determinados genes mitocondriales mediante secuenciaci\u00f3n y\/o an\u00e1lisis de tamizaje (por la t\u00e9cnica de csge), en muestras de dna de m\u00e1s de 200 pacientes del banco de dna de nuestro laboratorio, que han sido negativas para mutaciones puntuales conocidas o delecciones. la b\u00fasqueda de nuevas mutaciones permiti\u00f3 identificar 21 cambios en relaci\u00f3n a la secuenciaci\u00f3n de referencia de cambridge. Pensamos que la mayor\u00eda de estas nuevas mutaciones se hallan relacionadas directamente con la aparici\u00f3n de la enfermedad en los pacientes.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Mutaciones en el dna mitocondrial asociadas a enfermedades gen\u00e9ticas humanas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Mutaciones en el dna mitocondrial asociadas a enfermedades gen\u00e9ticas humanas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Abelardo Solano Palacios <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Zaragoza<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/01\/2003<\/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>Julio Montoya Villarroya<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  L\u00f3pez p\u00e9rez Manuel jos\u00e9 <\/li>\n<li> Pineda i marfa mercedes (vocal)<\/li>\n<li>armando Giner soria (vocal)<\/li>\n<li>antoni lLuis Andreu periz (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Abelardo Solano Palacios El dna mitocondrial humano (dnamt) codifica 13 prote\u00ednas que forman parte de 4 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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