{"id":11681,"date":"2018-03-09T08:57:10","date_gmt":"2018-03-09T08:57:10","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-molecular-y-funcional-del-receptor-de-isnulina-en-sa%c2%adndromes-de-resistencia-a-la-insulina\/"},"modified":"2018-03-09T08:57:10","modified_gmt":"2018-03-09T08:57:10","slug":"estudio-molecular-y-funcional-del-receptor-de-isnulina-en-sa%c2%adndromes-de-resistencia-a-la-insulina","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/estudio-molecular-y-funcional-del-receptor-de-isnulina-en-sa%c2%adndromes-de-resistencia-a-la-insulina\/","title":{"rendered":"Estudio molecular y funcional del receptor de isnulina en s\u00edndromes de resistencia a la insulina."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Susanna Riqu\u00e9 Rebull <\/strong><\/h2>\n<p>Desde el descubrimiento de la insulina por banting y best el 1992 se ha hecho un gran progreso en el conocimiento y la comprensi\u00f3n de su qu\u00edmica, fisiolog\u00eda y modo de acci\u00f3n. Todas las acciones que lleva a cabo esta hormona pancre\u00e1tica, tanto las metab\u00f3licas como las mitog\u00e9ncias, se dan a trav\u00e9s de su receptor. Este es un receptor de membrana, constituido por dos subunidades alfa que son extracelulares y que unen la insulina, y dos subunidades beta, con una regi\u00f3n transmembrana y una regi\u00f3n intracelular que tiene actividad tirosina quinasa intr\u00ednseca. Ya que el receptor es el primer paso en la se\u00f1alizaci\u00f3n iniciada por la insulina, ha sido considerado como un candidato a presentar mutaciones responsables de la disrupci\u00f3n de la se\u00f1al iniciada por la insulina y que consecuentemente dar\u00edan lugar a la resitencia a la insulina.  se han descrito tres s\u00edndromes gen\u00e9ticos de resistencia a la insulina asociados a mutaciones en el gen del receptor de insulina: s\u00edndrome de leprechaunismo, s\u00edndrome de rabson-mendenhall y s\u00edndrome de resistencia a la insulina tipo a o de kahn, aunque tambi\u00e9n de han descrito algunas mutaciones en algunos pacientes afectos de lipodistrofia y obesidad.  en el presente trabajo se han estudiado 18 pacientes con s\u00edndromes asociados a la resistencia a la insulina.  el estudio molecular de los receptores mediante amplificaci\u00f3n por pcr y secuenciaci\u00f3n autom\u00e1tica, permiti\u00f3 detectar tres nuevas mutaciones en heteroxigosis en tres pacientes afectas de resistencia a la insulina tipo a (a1; leu 40\/aceptor de splilcing-1239stop, a2; aceptor de splicing-1239 stop y a3; val1028), dos mutaciones en un paciente afecto del s\u00edndromte de rabson-mendengall previamente descritas (lys 15 y stop 1000), y una variaci\u00f3n en un individuo control (val985met), adem\u00e1s de diferentes polimorfismos. el estudio funcional de los receptores portadores de las nuevas mutaciones, mediante mutag\u00e9nesis dirigida y transfecci\u00f3n e<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio molecular y funcional del receptor de isnulina en s\u00edndromes de resistencia a la insulina.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio molecular y funcional del receptor de isnulina en s\u00edndromes de resistencia a la insulina. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Susanna Riqu\u00e9 Rebull <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/06\/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>Neus Potau Vilalta<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jos\u00e9 Egozcue cuixart <\/li>\n<li>roser Casamitjana (vocal)<\/li>\n<li>eugenia Mato matute (vocal)<\/li>\n<li>enric Vicen\u00ed\u00a7-calvet (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Susanna Riqu\u00e9 Rebull Desde el descubrimiento de la insulina por banting y best el 1992 se ha [&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":[160,115,258,17],"tags":[38340,20184,1331,38338,38339,38337],"class_list":["post-11681","post","type-post","status-publish","format-standard","hentry","category-bioquimica","category-bioquimica-molecular","category-hormonas","category-quimica","tag-enric-viceni-calvet","tag-eugenia-mato-matute","tag-jose-egozcue-cuixart","tag-neus-potau-vilalta","tag-roser-casamitjana","tag-susanna-rique-rebull"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/11681","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=11681"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/11681\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=11681"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=11681"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=11681"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}