{"id":89171,"date":"2001-06-03T00:00:00","date_gmt":"2001-06-03T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/dislipemias-mixtas-estudio-de-determinantes-geneticos-del-metabolismo-de-las-lipopotea%c2%adnas-ricas-en-trigliceridos\/"},"modified":"2001-06-03T00:00:00","modified_gmt":"2001-06-03T00:00:00","slug":"dislipemias-mixtas-estudio-de-determinantes-geneticos-del-metabolismo-de-las-lipopotea%c2%adnas-ricas-en-trigliceridos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/dislipemias-mixtas-estudio-de-determinantes-geneticos-del-metabolismo-de-las-lipopotea%c2%adnas-ricas-en-trigliceridos\/","title":{"rendered":"Dislipemias mixtas. estudio de determinantes gen\u00e9ticos del metabolismo de las lipopote\u00ednas ricas en triglic\u00e9ridos"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Angel-Luis Garc\u00eda Ot\u00edn <\/strong><\/h2>\n<p>La arteriosclerosis es la principal causa de mortalidad y de enfermedad invalidante en las sociedades desarrolladas. Las situaciones de dislipemia son un reconocido factor de riesgo para el desarrollo de arteriosclerosis, y entre \u00e9stas, las dislipemias mixtas (caracterizadas por una elevaci\u00f3n conjunta de colesterol y triglic\u00e9ridos plasm\u00e1ticos producida por la alteraci\u00f3n del metabolismo de part\u00edculas ricas en triglic\u00e9ridos) tienen una gran preValencia. entre ellas, la hiperlipemia familiar combinada (hlfc) y la disbetaliproteinemia tienen un car\u00e1cter hereditario. Mientras el defecto gen\u00e9tico para la disbetalipoproteinemia se encuentra en el gen de apoe, para la hlfc se desconoce el principal locus implicado y se proponen diferentes loci modificadores del fenotipo mostrado.  en este trabajo se analizan polimorfismos y mutaciones comunes en los genes de apoe, lpl y apociii, considerados por su influencia en el metabolismo lipoproteico, en un grupo de sujetos con dislipemia mixta primaria (en los que se distingui\u00f3 entre fenotipos iib y iii). Se estudia la influencia de dichos polimorfismos y mutaciones sobre las concentraciones lip\u00eddicas y de apoe, as\u00ed como el posible efecto en la respuesta a f\u00e1rmacos hipolipemiantes. asimismo, se han detectado en sujetos con disbetaliproteinemia mutaciones en el gen de apoe que corresponden a variantes de apoe causantes del fenotipo observado (e1(g127d), e2(r136s), e2(r136c)), y una mutaci\u00f3n silenciosa en el gen de lpl (c484g&gt;a) en sujetos con fenotipo iib.  tambi\u00e9n se han estudiado algunos sujetos con hipercolesterolemia o hipertrigliceridemia aisladas, y se han detectado una variante de apoe que se asocia al fenotipo de hipercolesterolemia (e3*l149), y dos mutaciones en el gen de lpl no descritas en un sujeto con hiperquilomicronemia (g273v y r306h). Se ha iniciado la caracterizaci\u00f3n del efecto de dichas mutaciones a trav\u00e9s de distintas aproximaciones.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Dislipemias mixtas. estudio de determinantes gen\u00e9ticos del metabolismo de las lipopote\u00ednas ricas en triglic\u00e9ridos<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Dislipemias mixtas. estudio de determinantes gen\u00e9ticos del metabolismo de las lipopote\u00ednas ricas en triglic\u00e9ridos <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Angel-Luis Garc\u00eda Ot\u00edn <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Zaragoza<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 06\/03\/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>Miguel Pocovi Mieras<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: fernando Civeira murillo <\/li>\n<li>Javier Sancho sanz (vocal)<\/li>\n<li>jordi Ordo\u00f1ez llanos (vocal)<\/li>\n<li>josep Ribalta vives (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Angel-Luis Garc\u00eda Ot\u00edn La arteriosclerosis es la principal causa de mortalidad y de enfermedad invalidante en las 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