{"id":81613,"date":"2018-03-10T00:05:30","date_gmt":"2018-03-10T00:05:30","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/identificacion-y-caracterizacion-molecular-de-un-nuevo-sindrome-muscular-asociado-a-mutaciones-patogenicas-en-elgen-del-citocromo-b-del-dna-mitocondrial\/"},"modified":"2018-03-10T00:05:30","modified_gmt":"2018-03-10T00:05:30","slug":"identificacion-y-caracterizacion-molecular-de-un-nuevo-sindrome-muscular-asociado-a-mutaciones-patogenicas-en-elgen-del-citocromo-b-del-dna-mitocondrial","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/identificacion-y-caracterizacion-molecular-de-un-nuevo-sindrome-muscular-asociado-a-mutaciones-patogenicas-en-elgen-del-citocromo-b-del-dna-mitocondrial\/","title":{"rendered":"Identificaci\u00f3n y caracterizacion molecular de un nuevo sindrome muscular asociado a mutaciones patogenicas en elgen del citocromo b del dna mitocondrial."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Antoni LLuis Andreu Periz <\/strong><\/h2>\n<p>En esta tesis se ha identificado y caracterizado molecularmente un nuevo s\u00edndrome muscular asociado a mutaciones patog\u00e9nicas en el gen mitocondrial del citocromo b humano. Se han identificado diversos defectos molecualres en el gen en diversos pacientes afectos de un s\u00edndrome caracterizado por intolerancia al ejercicio de larga evoluci\u00f3n en ausencia de herencia materna. asimismo se ha realizado el genotipaje del gen identificando cuatro genotipos caracterizados por el patr\u00f3n de segregaci\u00f3n de diversos polimorfismos.  las caracter\u00edsticas de la enfermedad incluyen; intolerancia al ejercicio, hiperlactacidemia, ausencia de herencia materna, presencia de fibras rojo-rasgadas que se ti\u00f1en intensamente para la actividad citocromo c oxidasa y presencia de las mutaciones en el tejido muscular difernciado. Los estudios en cultivo de mioblastos han determinado que se trata de mutaciones som\u00e1ticas que aprecen en los pacientes durante le proceso de replicaci\u00f3n del dna mitocondrial en los miotubos diferenciados.  todos los pacientes presentaban un d\u00e9ficit aislado del complejo iii de la cadena respiratoria que se diagnostico mediante la medida de la actividad de los enzimas respiratorios en homogeneizados de m\u00fasculo.  se han identificado seis pacientes afectos de este nuevo s\u00edndrome. Los defectos moleculares caracterizados han sido: dos mutaciones missense (g15762a que produce elmutante glicina-339-\u00e1cido glut\u00e1mico, y g14846a, que produce el mutante glicina-34-serina), tres mutaciones monsense (g15059a que produce el mutante glicina-190-stop, g15168a que produce el mutante tript\u00f3fano-141-stop, y g15084a que produce e lmutante tript\u00f3fano-113-stop) y una delecci\u00f3n intrag\u00e9nica (mcytb-15498-15521 que produce el mutante cytb 251-258.  estos hallazgos confirman que las mutaciones som\u00e1ticas en el dna mitocondrial pueden dar lugar a patolog\u00eda humana tejido-espec\u00edfica y rompen uno de los dogmas can\u00f3nicos de la gen\u00e9tica mitocondrial humn<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Identificaci\u00f3n y caracterizacion molecular de un nuevo sindrome muscular asociado a mutaciones patogenicas en elgen del citocromo b del dna mitocondrial.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Identificaci\u00f3n y caracterizacion molecular de un nuevo sindrome muscular asociado a mutaciones patogenicas en elgen del citocromo b del dna mitocondrial. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Antoni LLuis Andreu Periz <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/12\/1999<\/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>Di Mauro Salvatore<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: miquel Vilardell tarres <\/li>\n<li>acisclo P\u00e9rez martos (vocal)<\/li>\n<li>julio Montoya vilarroya (vocal)<\/li>\n<li>Elena Garc\u00eda arum\u00ed (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Antoni LLuis Andreu Periz En esta tesis se ha identificado y caracterizado molecularmente un nuevo s\u00edndrome muscular [&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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