{"id":25143,"date":"2018-03-09T09:16:25","date_gmt":"2018-03-09T09:16:25","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/la-atrofia-muscular-espinal-durante-el-desarrollo-humano-mecanismos-de-muerte-celular-y-expresion-de-genes-y-protea%c2%adnas-involucradas-en-la-enfermedad\/"},"modified":"2018-03-09T09:16:25","modified_gmt":"2018-03-09T09:16:25","slug":"la-atrofia-muscular-espinal-durante-el-desarrollo-humano-mecanismos-de-muerte-celular-y-expresion-de-genes-y-protea%c2%adnas-involucradas-en-la-enfermedad","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/la-atrofia-muscular-espinal-durante-el-desarrollo-humano-mecanismos-de-muerte-celular-y-expresion-de-genes-y-protea%c2%adnas-involucradas-en-la-enfermedad\/","title":{"rendered":"La atrofia muscular espinal durante el desarrollo humano: mecanismos de muerte celular y expresi\u00f3n de genes y prote\u00ednas involucradas en la enfermedad"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Corolina Soler Botija <\/strong><\/h2>\n<p>La atrofia muscular espinal (ame) es una enfermedad autos\u00f3mica  recesiva que conlleva a una degeneraci\u00f3n y p\u00e9rdida de las neuronas motoras del asta anterior de la medula espinal. Su incidencia es de 1 cada 6000\/10000 nacimientos y la frecuencia de portadores en la poblaci\u00f3n es de aproximadamente 1 en 50. Cursa con debilidad muscular progresiva a causa de la denervaci\u00f3n y atrofia de las fibras musculares.  la mitad de los casos son formas graves (tipo i) que mueren antes de los dos a\u00f1os de edad. La ame est\u00e1 causada por la ausencia del gen smn1 (survival motor neuron) que codifica una prote\u00edna completa y funcional. En cambio, todos los afectados tienen una forma hom\u00f3loga de este gen, smn2 que codifica una prote\u00edna incompleta que no puede evitar las manifestaciones de la enfermedad. los objetivos de esta tesis han sido el estudio de la enfermedad durante el desarrollo fetal y el per\u00edodo neonatal en los dos tejidos principalmente afectados (m\u00e9dula espinal y m\u00fasculo esquel\u00e9tico) a fin de caracterizar los mecanismos que llevan a la p\u00e9rdida de las neuronas motoras y a la afectaci\u00f3n muscular.  en primer lugar, se pudo detectar un incremento de la muerte neuronal por apoptosis en el asta anterior de la m\u00e9dula espinal en fetos ame tipo i respecto a los controles. Las neuronas motoras remanentes no presentaron cambios morfol\u00f3gicos apreciables. Parad\u00f3jicamente, en el per\u00edodo postnatal se detectaron signos de degeneraci\u00f3n neuronal pero no de apoptosis, indicando la existencia de dos mecanismos; uno prenatal, con aumento de la vulnerabilidad del dna y otro posterior que lleva a la degeneraci\u00f3n de las neuronas motoras. en las neuronas motoras de los fetos ame se observ\u00f3 tambi\u00e9n una regulaci\u00f3n alterada del patr\u00f3n de expresi\u00f3n de las prote\u00ednas anti-apot\u00f3ticas bcl-2 y bcl-x l que podr\u00eda hacerlas m\u00e1s susceptibles a la muerte celular programada que se observa durante el desarrollo. En el m\u00fasculo esquel\u00e9tico de fetos ame se<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>La atrofia muscular espinal durante el desarrollo humano: mecanismos de muerte celular y expresi\u00f3n de genes y prote\u00ednas involucradas en la enfermedad<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 La atrofia muscular espinal durante el desarrollo humano: mecanismos de muerte celular y expresi\u00f3n de genes y prote\u00ednas involucradas en la enfermedad <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Corolina Soler Botija <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/07\/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>Eduardo Tizzano Ferrari<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: josep Esquerda <\/li>\n<li>isabel Illa sendar (vocal)<\/li>\n<li>montserrat Oliv\u00e9 plana (vocal)<\/li>\n<li>Manuel Roig quilis (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Corolina Soler Botija La atrofia muscular espinal (ame) es una enfermedad autos\u00f3mica recesiva que conlleva a una [&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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