{"id":37724,"date":"1998-01-01T00:00:00","date_gmt":"1998-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-las-mutaciones-puntuales-del-dominio-de-union-del-gen-del-receptor-de-ldl-en-la-hipercolesterolemia-familiar-en-nuestro-medio-y-su-implicacion-clinica\/"},"modified":"1998-01-01T00:00:00","modified_gmt":"1998-01-01T00:00:00","slug":"estudio-de-las-mutaciones-puntuales-del-dominio-de-union-del-gen-del-receptor-de-ldl-en-la-hipercolesterolemia-familiar-en-nuestro-medio-y-su-implicacion-clinica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-de-las-mutaciones-puntuales-del-dominio-de-union-del-gen-del-receptor-de-ldl-en-la-hipercolesterolemia-familiar-en-nuestro-medio-y-su-implicacion-clinica\/","title":{"rendered":"Estudio de las mutaciones puntuales del dominio de union del gen del receptor de ldl en la hipercolesterolemia familiar en nuestro medio y su implicacion clinica."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Carlos Alonso-villaverde Lozano <\/strong><\/h2>\n<p>Introduccion la hipercolesterolemia familiar se caracteriza por presentar elevadas concentraciones de colesterol-ldl las cuales inducen la aparici\u00f3n de signos cl\u00ednicos como la presencia de xantomas, xantelasmas y arco corneal y tambi\u00e9n de cardiopat\u00eda isqu\u00e9mica en edades tempranas.  esta enfermedad est\u00e1 producida por un fallo en la funci\u00f3n del receptor de ldl en la superficie celular. Este fallo en el receptor de ldl est\u00e1 causado por mutaciones en el gen del receptor de ldl. La forma heterozigota la presentan 1 cada 500 individuos, es la enfermedad monog\u00e9nica m\u00e1s frecuente.  hipotesis la causa de la hipercolesterolemia familiar en espa\u00f1a es secundaria a m\u00e1s de un tipo de mutaci\u00f3n, a diferencia de lo que ocurre en otras latitudes.  objetivos estudio gen\u00e9tico del dominio de uni\u00f3n del gen del receptor de ldl estudio de la expresi\u00f3n cl\u00ednica de la hipercolesterolemia familiar en espa\u00f1a.  pacientes, material y metodos en 114 pacientes se estudio la presencia de dep\u00f3sitos lip\u00eddicos, cardiopat\u00eda isqu\u00e9mica y perfil lip\u00eddico. De estos 114 en 87 se realiz\u00f3 el estudio gen\u00e9tico mediante las t\u00e9cnicas de pcr, sscp y secuenciaci\u00f3n autom\u00e1tica. Se descart\u00f3, adem\u00e1s, la presencia de la mutaci\u00f3n apob-3500 resultados.  el 21% de los pacientes presentaron mutaciones en el dominio del gen del receptor de ldl, un paciente present\u00f3 dos mutaciones en el mismo alelo. Se secuenciaron las mutaciones cys152stop (no descrita previamente) y glu256lys hallada previamente en cuba. Clinicamente los pacientes con arco corneal, tabaquismo, concentraciones bajas de colesterol-hdl, y la presencia de un familiar de primer grado con cardiopat\u00eda isqu\u00e9mica ten\u00edan m\u00e1s riesgo de padecer cardiopat\u00eda isqu\u00e9mica.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de las mutaciones puntuales del dominio de union del gen del receptor de ldl en la hipercolesterolemia familiar en nuestro medio y su implicacion clinica.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de las mutaciones puntuales del dominio de union del gen del receptor de ldl en la hipercolesterolemia familiar en nuestro medio y su implicacion clinica. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Carlos Alonso-villaverde Lozano <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Rovira i virgili<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1998<\/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>LLuis Masana Marin<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Miquel Vilardell Tarres <\/li>\n<li>Juan  Carlos Laguna Egea (vocal)<\/li>\n<li> Pedro-botet Montoya Juan  Carlos (vocal)<\/li>\n<li>Antoni Castro Salom\u00f3 (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Carlos Alonso-villaverde Lozano Introduccion la hipercolesterolemia familiar se caracteriza por presentar elevadas concentraciones de colesterol-ldl las cuales [&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":[155,35,9,962,11771,18759],"tags":[78675,98591,20224,14099,13703,53029],"class_list":["post-37724","post","type-post","status-publish","format-standard","hentry","category-ciencias-clinicas","category-ciencias-de-la-vida","category-ciencias-medicas","category-genetica","category-genetica-clinica","category-rovira-i-virgili","tag-antoni-castro-salomo","tag-carlos-alonso-villaverde-lozano","tag-juan-carlos-laguna-egea","tag-lluis-masana-marin","tag-miquel-vilardell-tarres","tag-pedro-botet-montoya-juan-carlos"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/37724","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=37724"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/37724\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=37724"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=37724"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=37724"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}