{"id":81249,"date":"2018-03-10T00:05:06","date_gmt":"2018-03-10T00:05:06","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/diagnostico-molecular-de-enfermedades-del-dna-mitocondrial\/"},"modified":"2018-03-10T00:05:06","modified_gmt":"2018-03-10T00:05:06","slug":"diagnostico-molecular-de-enfermedades-del-dna-mitocondrial","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/diagnostico-molecular-de-enfermedades-del-dna-mitocondrial\/","title":{"rendered":"Diagn\u00f3stico molecular de enfermedades del dna mitocondrial"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ana Playan Ariso <\/strong><\/h2>\n<p>Esta tesis doctoral consiste en el an\u00e1lisis gen\u00e9tico molecular del dna mitocontrial de familias espa\u00f1olas afectadas con s\u00edndromes encuadrados como enfermedades mitocondriales. En particular, se han analizado pacientes con los s\u00edndromes de leber, melas, etc .. Y pacientes, fundamentalmente ni\u00f1os, con disfunciones neurol\u00f3gicas degenerativas de causa desconocida pero con sospecha de deficiencias en la producci\u00f3n de atp por sus tejidos.  los m\u00e9todos de estudio utilizados en la b\u00fasqueda de defectos gen\u00e9ticos mitocondriales han sido: la amplificaci\u00f3n de un fragmento de dna con la reacci\u00f3n en cadena de la polimerasa y digesti\u00f3n con la enzima de restricci\u00f3n adecuada, la hibridaci\u00f3n southern para el estudio de deleciones en el dna mitocondrial y la secuenciaci\u00f3n para saber exactamente los genes que se hab\u00edan perdido.  se han estudiado 283 pacientes: 26 diagnosticados de neuropat\u00eda optica hereditaria de leber y 257 con diversas miopat\u00edas mitocondriales: s\u00edndrome de leigh (25 casos), s\u00edndrome de melas (18 casos), s\u00edndrome de merrf (6 casos), amaurosis cong\u00e9nita de leber (3 casos), necrosis bilateral del estriado (7 casos), lipomatosis m\u00faltiple sim\u00e9trica (1 caso), s\u00edndrome de kearns-sayre (10 casos), s\u00edndrome de pearson (4 casos), cpeo (8 casos), s\u00edndrome heredo-at\u00e1xico con neuropat\u00eda sensorial severa (2 casos), leucodistrofia (3 casos), d\u00e9ficit de glutation (1 caso) y el resto con caracter\u00edsticas cl\u00ednicas no agrupables dentro de un s\u00edndrome concreto.  se ha encontrado alg\u00fan defecto gen\u00e9tico en el dna mitocondrial en 45 pacientes: 21 presentaron mutaciones puntuales en el dna mitocondrial (9 de los casos diagnosticados de lhon, 3 de los que vinieron diagnosticados de s\u00edndrome de leigh, 3 de los diagnosticados de melas, 1 caso con merrf, 2 casos con amaurosis cong\u00e9nita de leber, 2 casos con necrosis bilateral del estriado y 1 familia con lipomatosis m\u00faltiple sim\u00e9trica familiar). se describe por primera vez la<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Diagn\u00f3stico molecular de enfermedades del dna mitocondrial<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Diagn\u00f3stico molecular de enfermedades del dna mitocondrial <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ana Playan Ariso <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Zaragoza<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 16\/11\/1999<\/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 j. <\/li>\n<li>Manuel Roig quilis (vocal)<\/li>\n<li>Antonio Baldellou vazquez (vocal)<\/li>\n<li>m\u00c2\u00ba antonia Vilaseca busca (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ana Playan Ariso Esta tesis doctoral consiste en el an\u00e1lisis gen\u00e9tico molecular del dna mitocontrial de familias [&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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