{"id":97519,"date":"2018-03-11T10:18:03","date_gmt":"2018-03-11T10:18:03","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-mutaciones-en-genes-de-reparacion-del-adn-de-pacientes-con-sindrome-de-lynch\/"},"modified":"2018-03-11T10:18:03","modified_gmt":"2018-03-11T10:18:03","slug":"estudio-de-mutaciones-en-genes-de-reparacion-del-adn-de-pacientes-con-sindrome-de-lynch","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/estudio-de-mutaciones-en-genes-de-reparacion-del-adn-de-pacientes-con-sindrome-de-lynch\/","title":{"rendered":"Estudio de mutaciones en genes de reparacion del adn de pacientes con sindrome de lynch"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Juan a Victoria Martin Lopez <\/strong><\/h2>\n<p>Una serie de s\u00edndromes hereditarios pueden predisponer a los pacientes a padecer c\u00e1ncer colorrectal.  El s\u00edndrome de lynch se caracteriza por ser la forma m\u00e1s com\u00fan de c\u00e1ncer de colon hereditario, con una preValencia del 2-5% de los tumores malignos de colon, seguido por la poliposis adenomatosa familiar, la cual cuenta para menos del 1% de este tipo de tumor. el s\u00edndrome de lynch se caracteriza por ser una enfermedad hereditaria, autos\u00f3mica dominante, de susceptibilidad al c\u00e1ncer, con una penetrancia en torno al 80-85%. Se caracteriza por la presencia de c\u00e1ncer colorrectal y\/o endometrial en estados inusualmente tempranos con una media de aparici\u00f3n de la enfermedad de 45 a\u00f1os, con respecto a la media de aparici\u00f3n del c\u00e1ncer colorrectal espor\u00e1dico que se sit\u00faa en 63 a\u00f1os.  durante la replicaci\u00f3n del adn, la presencia de errores en la s\u00edntesis de la nueva cadena es inevitable. El s\u00edndrome de lynch se debe a la presencia de una mutaci\u00f3n en la l\u00ednea germinal en uno de los genes del sistema reparador de nucle\u00f3tidos desapareados ( sistema mmr o mismatch repair system) en el adn, durante el proceso de replicaci\u00f3n. varias familias fueron diagnosticadas con la enfermedas. En la presente tesis, se propuso la b\u00fasqueda de mutaciones para las principales prote\u00ednas del sistema mmr en las familias recogidas y la caracterizaci\u00f3n funcional de las mutaciones encontradas. De esta manera se puede observar la relaci\u00f3n fenotipo-genotipo y conocer los grados de penetrancia y severidad de la enfermedad.  cinco familias presentaron la mutaci\u00f3n m688r en el gen hmsh2, no encontr\u00e1ndose ninguna otra mutaci\u00f3n causante de la enfermedad en las familias restantes. En el an\u00e1lisis funcional de esta mutaci\u00f3n, se observ\u00f3 que el complejo hmutsalfa mutado, es capaz de reconocer los desapareados en la mol\u00e9cula de adn, pero incapaz de disociarse del mismo en presencia de atp. Tiene afectado el centro activo atpasa , no siendo capaz de llevar a cabo una reacci\u00f3n de reparaci\u00f3n in vitro entre otros resultados&#8230;<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de mutaciones en genes de reparacion del adn de pacientes con sindrome de lynch<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de mutaciones en genes de reparacion del adn de pacientes con sindrome de lynch <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Juan a Victoria Martin Lopez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 La laguna<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/11\/2009<\/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>Eduardo Salido Ruiz<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: enrique Quintero carrion <\/li>\n<li>Juan  Carlos D\u00edaz chico (vocal)<\/li>\n<li>raimundo Freire betancort (vocal)<\/li>\n<li>Javier Santos hern\u00e1ndez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Juan a Victoria Martin Lopez Una serie de s\u00edndromes hereditarios pueden predisponer a los pacientes a padecer [&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":[36483,8901,35,9915,156],"tags":[52658,16695,103585,199782,199783,83276],"class_list":["post-97519","post","type-post","status-publish","format-standard","hentry","category-biologia-molecular","category-carcinogenesis","category-ciencias-de-la-vida","category-la-laguna","category-patologia","tag-eduardo-salido-ruiz","tag-enrique-quintero-carrion","tag-javier-santos-hernandez","tag-juan-a-victoria-martin-lopez","tag-juan-carlos-diaz-chico","tag-raimundo-freire-betancort"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/97519","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=97519"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/97519\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=97519"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=97519"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=97519"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}