{"id":18563,"date":"2018-03-09T09:07:09","date_gmt":"2018-03-09T09:07:09","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-la-implicacion-de-las-betaconexinas-en-sordera-y-neuropata%c2%ada-periferica\/"},"modified":"2018-03-09T09:07:09","modified_gmt":"2018-03-09T09:07:09","slug":"estudio-de-la-implicacion-de-las-betaconexinas-en-sordera-y-neuropata%c2%ada-periferica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/estudio-de-la-implicacion-de-las-betaconexinas-en-sordera-y-neuropata%c2%ada-periferica\/","title":{"rendered":"Estudio de la implicaci\u00f3n de las betaconexinas en sordera y neuropat\u00edaperif\u00e9rica"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Nuria Lopez Bigas <\/strong><\/h2>\n<p>La sordera es el efecto sensitivo m\u00e1s frecuente en humanos. Actualmente se conocen 26 genes implicados en sordera no sindr\u00f3mica y m\u00e1s de 60 loci implicados en sordera sindr\u00f3mica. Mutaciones en el gen de la conexina 26 (gjb2) son la causa m\u00e1s frecuente de sordera no sindr\u00f3mica. La neuropat\u00eda perif\u00e9rica hereditaria es una enfermedad gen\u00e9ticamente heterogenia. Actualmente se conocen 14 genes implicados en esta enfermedad, entre los cuales se encuentra el gen gjb1, que codifica para la conexina 32. La conexinas son las prote\u00ednas que forman las uniones gap, que permiten la comunicaci\u00f3n entre el citoplasma de dos c\u00e9lulas vecinas para el paso de iones y mol\u00e9culas de peque\u00f1o tama\u00f1o. El objetivo de esta tesis doctoral ha sido investigar la importancia de otras betaconexinas en sordera y neuropat\u00eda perif\u00e9rica. se ha realizado el an\u00e1lisis de mutaciones de los genes, gfb1, gjb3, gjb3, gjb4, gjb5 y gjb6 en un grupo de unos 200 familias con sordera y el an\u00e1lisis del gen gjb3 en 110 familias con neuropat\u00eda perif\u00e9rica. Estos an\u00e1lisis han permitido identificar una mutaci\u00f3n, d66del, en el gen gjb3, como la causa de sordera y neuropat\u00eda perif\u00e9rica en una familia espa\u00f1ola, y una mutaci\u00f3n en el gen gjb6, t5m, como la causa de sordera en una familia italiana con sordera dominante y progresiva. Tambi\u00e9n se han detectado otras variantes en los genes gjb3 y gjb4 no implicadas en los fenotipos estudiados. Por otro lado se ha realizado un estudio de expresi\u00f3n por la t\u00e9cnica de hibridaci\u00f3n in situ de varias betaconexinas en la coclea y nervio perif\u00e9rico de rat\u00f3n, demostrando que el gen gjb3 se expresa en la c\u00e9lulas de schwann del nervio ci\u00e1tico y auditivo de rat\u00f3n y que los genes gjb3 y gjb1 presentan una expresi\u00f3n transitoria en varias estructuras de la c\u00f3clea durante el desarrollo de este \u00f3rgano y que gjb3 se expresa tambi\u00e9n en diversas c\u00e9lulas de la c\u00f3clea adulta.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de la implicaci\u00f3n de las betaconexinas en sordera y neuropat\u00edaperif\u00e9rica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de la implicaci\u00f3n de las betaconexinas en sordera y neuropat\u00edaperif\u00e9rica <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Nuria Lopez Bigas <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 19\/07\/2002<\/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>Xavier Estivill Pallej?<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: virginia Nunes mart\u00ednez <\/li>\n<li>jean-luc Puel (vocal)<\/li>\n<li> Pellicer i sarasa marc (vocal)<\/li>\n<li>Marta Giralt oms (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Nuria Lopez Bigas La sordera es el efecto sensitivo m\u00e1s frecuente en humanos. Actualmente se conocen 26 [&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":[951,212,35,3587,817,2820,7263],"tags":[57505,36755,57504,57506,29144,29141],"class_list":["post-18563","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-biologia-humana","category-ciencias-de-la-vida","category-fisiologia-de-la-audicion","category-fisiologia-humana","category-genetica-humana","category-organos-sensoriales","tag-jean-luc-puel","tag-marta-giralt-oms","tag-nuria-lopez-bigas","tag-pellicer-i-sarasa-marc","tag-virginia-nunes-Martinez","tag-xavier-estivill-pallej"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/18563","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=18563"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/18563\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=18563"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=18563"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=18563"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}