{"id":14097,"date":"2018-03-09T09:00:39","date_gmt":"2018-03-09T09:00:39","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/bases-moleculares-de-la-diabetes-tipo-2-determinantes-geneticos-de-la-amilina\/"},"modified":"2018-03-09T09:00:39","modified_gmt":"2018-03-09T09:00:39","slug":"bases-moleculares-de-la-diabetes-tipo-2-determinantes-geneticos-de-la-amilina","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/bases-moleculares-de-la-diabetes-tipo-2-determinantes-geneticos-de-la-amilina\/","title":{"rendered":"Bases moleculares de la diabetes tipo 2: determinantes gen\u00e9ticos de la amilina"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Rojas Fern\u00e1ndez M. Isabel <\/strong><\/h2>\n<p>La amilina es el principal componente de los dep\u00f3sitos de amiloide detectados en los islotes pancre\u00e1ticos de pacientes con diabetes mellitus (dm) tipo 2. La presencia de tales dep\u00f3sitos ejerce un papel fundamental en la disfunci\u00f3n y progresiva destrucci\u00f3n de la poblaci\u00f3n celular beta. La hip\u00f3tesis de trabajo del presente proyecto de tesis doctoral es que mutaciones en la regi\u00f3n promotora o en las regiones codificantes del gen podr\u00edan conducir a una alteraci\u00f3n en la expresi\u00f3n de la amilina o bien en la s\u00edntesis del p\u00e9ptido.  objetivos  investigar la presencia de mutaciones en los exones, 1,2 y 3, as\u00ed como en la regi\u00f3n promotora del gen de la amilina en pacientes con dm tipo 2 y diabetes mellitus gestacional (dmg). Estudio gen\u00e9tico y cl\u00ednico del pedrigr\u00ed familiar de pacientes portadores de mutaciones. Estudiar los mecanismos de regulaci\u00f3n de la actividad del promotor de la amilina en la l\u00ednea celular min6.  pacientes y m\u00e9todos  se estudiaron 392 personas no emparentadas: 186 pacientes con dm tipo 2, 130 controles, 38 mujeres con dmg y 38 gestantes con tolerancia normal a la glucosa. El estudio de mutaciones se analiz\u00f3 por sscp y confirmaci\u00f3n por secunciaci\u00f3n. En familiares de primer grado de probandos portadores de mutaciones se practic\u00f3 estudio gen\u00e9tico, as\u00ed como un test de tolerancia oral a la glucosa (ttog) para determinar glucosa, insulina y amilina a los 0,30,60,90 y 120 minutos. El estudio de la actividad del promotor de la amilina fue realizado mediante el sistema dual-luciferasa (promega) en la l\u00ednea celular min6. La actividad lucifersa fue determinada despu\u00e9s de 20-24 h de cultivo en preencia de glucosa 5.5 o 22.7 mm, 6-deoxi-d-glucosa 11.2 mm, manoheptulosa 11.2 mm, verapamil 100 um, diaz\u00f3xido 0.6 mm, forskolina 10 um y dexametasona 10 um.  resultados y conclusiones  se identific\u00f3 un polimorfismo intr\u00f3nico -c79a- asociado a concentraciones plasm\u00e1ticas m\u00e1s bajas de colesterol total en pacie<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Bases moleculares de la diabetes tipo 2: determinantes gen\u00e9ticos de la amilina<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Bases moleculares de la diabetes tipo 2: determinantes gen\u00e9ticos de la amilina <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Rojas Fern\u00e1ndez M. Isabel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 29\/11\/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>Ramon Gomis Aebardiera<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: pilar Sard\u00e1 avre <\/li>\n<li>Miguel Fern\u00e1ndez latorre (vocal)<\/li>\n<li>anna Sanmart\u00ed  sala (vocal)<\/li>\n<li>anna Mar\u00eda G\u00f3mez foix (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Rojas Fern\u00e1ndez M. Isabel La amilina es el principal componente de los dep\u00f3sitos de amiloide detectados 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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[951,9,851,139],"tags":[45521,45520,45519,45518,45517,45516],"class_list":["post-14097","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-ciencias-medicas","category-endocrinologia","category-medicina-interna","tag-anna-maria-gomez-foix","tag-anna-sanmarti-sala","tag-miguel-fernandez-latorre","tag-pilar-sarda-avre","tag-ramon-gomis-aebardiera","tag-rojas-fernandez-m-isabel"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/14097","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=14097"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/14097\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=14097"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=14097"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=14097"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}