{"id":57601,"date":"2018-03-09T22:45:24","date_gmt":"2018-03-09T22:45:24","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/homocistea%c2%adna-y-enfermedad-estudio-genetico-y-molecular-de-la-homocistinuria-y-del-riesgo-cardiovascular\/"},"modified":"2018-03-09T22:45:24","modified_gmt":"2018-03-09T22:45:24","slug":"homocistea%c2%adna-y-enfermedad-estudio-genetico-y-molecular-de-la-homocistinuria-y-del-riesgo-cardiovascular","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/barcelona\/homocistea%c2%adna-y-enfermedad-estudio-genetico-y-molecular-de-la-homocistinuria-y-del-riesgo-cardiovascular\/","title":{"rendered":"Homociste\u00edna y enfermedad: estudio gen\u00e9tico y molecular de la homocistinuria y del riesgo cardiovascular"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Roser Urreizti Frexedas <\/strong><\/h2>\n<p>El objetivo de esta tesis doctoral ha sido el estudio molecular de las variaciones plasm\u00e1ticas en dos patolog\u00edas asociadas a este metabolito. Por un lado, la enfermedad monog\u00e9ncia homocistinuria (hcu) cl\u00e1sica [por deficiencia en el enzima cistationina beta-sintasa (cbs)]. Por otro lado el estudio de asociaci\u00f3n de genes candidatos del metabolismo de la homociste\u00edna (hcy) con lahiperhoimocisteinemia y con la cardiopat\u00eda isqu\u00e9mica (cai).     en el estudio molecular de la hcu en pacientes de la pen\u00ednsula ib\u00e9rica y latinoam\u00e9rica se ha caracterizado el 96% de los alelos causales. Se han encontrado una elevada preValencia del alelo p.T191m, por tanto en la pen\u00ednsula como en colombia. Mediante el estudio de haplotipos se ha determinado un origen m\u00faltiple para este alelo. Con el fin de comprobar la patogeneicidad de los alelos mutantes se realiz\u00f3 el estudio funcional de 14 de los cambios encontrados que la mayor\u00eda de enzimas mutados pierden totalmente de los cambios encontrados en la cohorte estudiada encontrando que la mayor\u00eda de enzimas mutados pierden totalmente su actividad enzim\u00e1tica mientras s\u00f3lo 3 conservan valores de actividad superiores al 10, en particular, el enzima mutado p.R548q conserva el 60% de la actividad y un patr\u00f3n de activaci\u00f3n correcto, lo que sugiere que este cambio es un polimorfismo y no una mutaci\u00f3n patog\u00e9nica.     en estudio de asociaci\u00f3n con genes candidatos hemos encontrado que el alelo c.66 g del gen msr est\u00e1 significativamente asociado a un incremento del riesgo relativo (rr) a sufrir cai de 1,76. As u vez, el haplotipo presente en el gen  cbs est\u00e1 significativamente asociado con un incremento del rr de 2,16. Los polimorfismos presentes en el gen mthfr son los \u00fanicos significativamente asociados con los niveles de hcy.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Homociste\u00edna y enfermedad: estudio gen\u00e9tico y molecular de la homocistinuria y del riesgo cardiovascular<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Homociste\u00edna y enfermedad: estudio gen\u00e9tico y molecular de la homocistinuria y del riesgo cardiovascular <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Roser Urreizti Frexedas <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 22\/03\/2007<\/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>Susana Balcells Comas<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: llu\u00ed\u00afsa Vilagueliu arqu\u00e9s <\/li>\n<li>ram\u00f3n Deulofeu piquet (vocal)<\/li>\n<li>Rafael Artuch iriberri (vocal)<\/li>\n<li>Antonio Baldellou vazquez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Roser Urreizti Frexedas El objetivo de esta tesis doctoral ha sido el estudio molecular de las variaciones [&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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