{"id":21113,"date":"2003-10-01T00:00:00","date_gmt":"2003-10-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-del-adn-mitocondrial-en-miopata%c2%adas-mitocondriales\/"},"modified":"2003-10-01T00:00:00","modified_gmt":"2003-10-01T00:00:00","slug":"estudio-del-adn-mitocondrial-en-miopata%c2%adas-mitocondriales","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-del-adn-mitocondrial-en-miopata%c2%adas-mitocondriales\/","title":{"rendered":"Estudio del adn mitocondrial en miopat\u00edas mitocondriales"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Yolanda Campos Gonz\u00e1lez <\/strong><\/h2>\n<p>Este estudio presentado como memoria de la tesis doctoral \u00abestudio del adn mitocondrial en miopat\u00edas mitocondriales\u00bb es un reflejo del trabajo realizado en una unidad de referencia para el estudio de las enfermedades mitocondriales en espa\u00f1a, e incluye todos los casos diagnosticados que se han remetido al hospital 12 de octubre en los \u00faltimos a\u00f1os.  el 25% de los pacientes de nuestra serie mostraron alguna alteraci\u00f3n gen\u00e9tica en el adn mitocondrial. Las mutaciones m\u00e1s frecuentes fueron los reagrupamientos, que incluyen las deleciones \u00fanicas y m\u00faltiples. El fenotipo cl\u00ednico predominante en los pacientes con deleci\u00f3n \u00fanica fue el s\u00edndrome de kearns-sayre y en aquellos con deleciones m\u00faltiples la miopat\u00eda ocular.  la mutaci\u00f3n puntual a3243g y en menor medida la a8644g tambi\u00e9n se hallaron en un n\u00famero significativo de pacientes, asociadas mayoritariamente a encefalomiopat\u00edas tipo melas y merrf respectivamente. No obstante, se ha demostrado que existe un cierto grado de heterogeneidad cl\u00ednica y respectivamente. No obstante, se ha demostrado que existe un cierto grado de heterogeneidad cl\u00ednica y gen\u00e9tica. Tambi\u00e9n se documentan en el presente trabajo las frecuencias de otras mutaciones conocidas en el adnmt como las ligadas a la enfermedad de leber y a los s\u00edndromes narp\/leigh de herencia materna.  las frecuencias de todas estas mutaciones se incrementaron notablemente cuando se buscaron s\u00f3lo en los pacientes que presentaron signos de proliferaci\u00f3n mitocondrial en la biopsia muscular (i.E., Fibras rojo-rasgadas).  en este trabajo tambi\u00e9n se documenta que el trnaleu (uur) es la regi\u00f3n del adnmt con m\u00e1s alta probabilidad de mutaci\u00f3n. As\u00ed mismo se describen 5 nuevas mutaciones presumiblemente patog\u00e9nicas seg\u00fan los criterios can\u00f3nicos establecidos.  en 4 de ellas (t3258c, t3273c, a3280g, g7896a), se demuestra su patogenicidad por medio de pcr en fibra muscular aislada. Los estudios de prote\u00ednas mitocondriales m<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio del adn mitocondrial en miopat\u00edas mitocondriales<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio del adn mitocondrial en miopat\u00edas mitocondriales <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Yolanda Campos Gonz\u00e1lez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 10\/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>Joaquin Arenas Barbero<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: enrique Bl\u00e1zquez fern\u00e1ndez <\/li>\n<li>antoni lLuis Andreu periz (vocal)<\/li>\n<li>Rafael Alarc\u00f3n (vocal)<\/li>\n<li>Javier Guti\u00e9rrez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Yolanda Campos Gonz\u00e1lez Este estudio presentado como memoria de la tesis doctoral \u00abestudio del adn mitocondrial en [&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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