{"id":16485,"date":"2018-03-09T09:04:08","date_gmt":"2018-03-09T09:04:08","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/genetica-molecular-de-la-deficiencia-eritrocitaria-humana-en-piruvato-kinasa\/"},"modified":"2018-03-09T09:04:08","modified_gmt":"2018-03-09T09:04:08","slug":"genetica-molecular-de-la-deficiencia-eritrocitaria-humana-en-piruvato-kinasa","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/genetica-molecular-de-la-deficiencia-eritrocitaria-humana-en-piruvato-kinasa\/","title":{"rendered":"Gen\u00e9tica molecular de la deficiencia eritrocitaria humana en piruvato kinasa"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Amando Garrido Pertierra <\/strong><\/h2>\n<p>La piruvato quinasa (atp: piruvato 5- o- fosfotransferasa; ec 2.7.1.40) cataliza la transformaci\u00f3n de fosfoenolpiruvato y adp en piruvato y atp. esta enzima, que aparece en todas las c\u00e9lulas vivas, es clave en la ruta central del metabolismo de los carbohidratos. En la especie humana han sido caracterizados dos genes diferentes: el pk-m que principalmente, codifica las isozimas del tejido musucular y de los leucocitos y la pk-lr que codifica las isozimas del h\u00edgado y de los eritrocitos. La deficiencia en piruvato quinasa, debido a una mutaci\u00f3n en el gen pk-lr, origina alteraciones, \u00fanicamente, en el metabolismo de los eritrocitos, porque estas c\u00e9lulas no son capaces de compensar el defecto enzim\u00e1tico aumentando la s\u00edntesis de enzima mutada ni utilizar otras rutas degradativas. Por ello, la deficiencia de esta enzima es causa principal de la anemia hemol\u00edtica no esferoc\u00edtica; los s\u00edntomas cl\u00ednicos de esta enfermedad abarcan desde un estado hemol\u00edtico compensado hasta una anemia grave que pude provocar incluso la muerte de los pacientes.  los m\u00e9todos cl\u00e1sicos para estudiar las variantes con deficiencia piruvato quinasa han sido estandarizados por la comisi\u00f3n internacional de estandarizaci\u00f3n en hematolog\u00eda (icsh). Sin embargo, la interpretaci\u00f3n de los resultados bioqu\u00edmicos de las enzimas deficientes en la actividad piruvato quinasa se ve dificultada por la alta frecuencia de heterocigotos que conducen a enzimas h\u00edbridas con diferentes propiedades moleculares. Adem\u00e1s, debido a la baja actividad de la enzima en los eritrocitos de los pacientes, estos requieren constantemente sangre y la caracterizaci\u00f3n de la enzima deficiente se ve dificultada por las actividades de la enzima de los eritrocitos normales del donante y del producto del gen pk-m de los leucocitos. Estos problemas han llevado a estudiar la enzimopat\u00eda eritrocitaria piruvato quinasa mediante t\u00e9cnicas de biolog\u00eda molecular, utilizando fundamentalmente la am<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Gen\u00e9tica molecular de la deficiencia eritrocitaria humana en piruvato kinasa<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Gen\u00e9tica molecular de la deficiencia eritrocitaria humana en piruvato kinasa <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Amando Garrido Pertierra <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 19\/04\/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> Bautista Santacruz Jos\u00e9 Manuel<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: manuel Ruiz amil <\/li>\n<li> De vicente jordana rom\u00e1n (vocal)<\/li>\n<li>Mar\u00eda Cascales angosto (vocal)<\/li>\n<li>Francisco Castillo rodriguez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Amando Garrido Pertierra La piruvato quinasa (atp: piruvato 5- o- fosfotransferasa; ec 2.7.1.40) cataliza la transformaci\u00f3n de [&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":[160,115,955,940,3178,17],"tags":[3252,52064,52065,20893,673,4825],"class_list":["post-16485","post","type-post","status-publish","format-standard","hentry","category-bioquimica","category-bioquimica-molecular","category-enzimologia","category-genetica-bioquimica","category-proteinas","category-quimica","tag-amando-garrido-pertierra","tag-bautista-santacruz-jose-manuel","tag-de-vicente-jordana-roman","tag-francisco-castillo-rodriguez","tag-manuel-ruiz-amil","tag-maria-cascales-angosto"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/16485","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=16485"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/16485\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=16485"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=16485"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=16485"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}