{"id":21240,"date":"2013-10-04T10:19:00","date_gmt":"2013-10-04T08:19:00","guid":{"rendered":"https:\/\/www.opc.cat\/detectan-supresiones-de-genes-en-individuos-con-autismo-2\/"},"modified":"2013-10-04T10:19:00","modified_gmt":"2013-10-04T08:19:00","slug":"detectan-supresiones-de-genes-en-individuos-con-autismo-2","status":"publish","type":"post","link":"https:\/\/www.opc.cat\/es\/detectan-supresiones-de-genes-en-individuos-con-autismo-2\/","title":{"rendered":"Detectan supresiones de genes en individuos con autismo"},"content":{"rendered":"<div class=\"separator\" style=\"clear: both; text-align: center;\">\n<a href=\"http:\/\/2.bp.blogspot.com\/-Yzo7ck71wxI\/UoNhjLWs2pI\/AAAAAAAAAK0\/1lDB9hTfUtU\/s1600\/autismo.jpge.jpg\" imageanchor=\"1\" style=\"clear: left; float: left; margin-bottom: 1em; margin-right: 1em;\"><img fetchpriority=\"high\" decoding=\"async\" border=\"0\" height=\"201\" src=\"https:\/\/www.opc.cat\/wp-content\/uploads\/2013\/10\/autismo.jpge_.jpg\" width=\"320\" \/><\/a><\/div>\n<p>Con una potente tecnolog\u00eda de secuenciaci\u00f3n gen\u00e9tica, un equipo de investigadores, dirigido por cient\u00edficos de la Escuela de Medicina Icahn en el Hospital Monte Sina\u00ed, en Nueva York, Estados Unidos, escaneo el genoma de centenares de personas y descubri\u00f3 que las diagnosticadas con trastorno del espectro autista (ASD, en sus siglas en ingl\u00e9s) eran m\u00e1s propensas a tener supresiones de genes que los individuos sin el trastorno.<\/p>\n<p>Eso significa que esas personas (el 7 por ciento del grupo de estudio) ten\u00edan una copia de uno o m\u00e1s genes cuando deber\u00edan haber tenido dos, seg\u00fan explican los autores de la investigaci\u00f3n, publicada en &#8216;American Journal of Human Genetics&#8217;. A su juicio, este an\u00e1lisis sugiere que las deleciones pueden dar lugar a un defecto en la actividad de conexi\u00f3n y una alteraci\u00f3n de las neuronas cerebrales.<\/p>\n<p>\u00abEste es el primer hallazgo sobre que peque\u00f1as deleciones que afectan a uno o dos genes parecen ser comunes en el autismo y que estas supresiones contribuyen al riesgo de desarrollo de la enfermedad \u00ab, manifest\u00f3 el investigador principal del estudio, Joseph D. Buxbaum, profesor de Psiquiatr\u00eda Gen\u00e9tica y Ciencias Gen\u00f3micas y Neurociencias de la Facultad de Medicina de Icahn.<\/p>\n<p>Este investigador entiende que esta conclusi\u00f3n debe amplairse en otras muestras independientes de ASD para entender realmente c\u00f3mo se manifiesta el riesgo. De hecho, este proceso ya est\u00e1 en marcha en un Consorcio de Secuenciaci\u00f3n del Autismo, que incluye a m\u00e1s de 25 instituciones, y que fue galardonado con una beca de 7 millones de d\u00f3lares (m\u00e1s de 5 millones de euros) del Instituto Nacional de Salud norteamericano para continuar analizando los genomas de miles de individuos con ASD en el Monte Sina\u00ed.<\/p>\n<p>El autismo, que afecta a aproximadamente el 1 por ciento de la poblaci\u00f3n, es un trastorno del desarrollo que se cree que est\u00e1 causado por una compleja interacci\u00f3n entre factores gen\u00e9ticos y ambientales. Aunque el trastorno es altamente heredable, la mayor\u00eda de los casos de autismo no puede atribuirse a causas hereditarias conocidas, se\u00f1ala el doctor Buxbaum.<\/p>\n<p>Mientras que la investigaci\u00f3n ha indicado que podr\u00eda haber hasta 1.000 genes o regiones gen\u00f3micas que contribuyen a ASD, la mayor\u00eda de estudios han observado, mutaciones de un solo punto (un cambio de una sola letra del ADN de un gen) o en grandes \u00e1reas de el genoma, que abarca muchos genes, que se alteran. En este trabajo, los investigadores buscaron una peque\u00f1a variaci\u00f3n del n\u00famero de copias (la supresi\u00f3n o duplicaci\u00f3n de genes) entre los individuos con ASD y una poblaci\u00f3n \u00abcontrol\u00bb sin el trastorno.<\/p>\n<p>Para realizar el estudio, utilizaron la secuenciaci\u00f3n del exoma con el fin de ver todos los 22.000 genes humanos en el conjunto de la muestra y analizaron los datos mediante el programa del exoma &#8216;Hidden Markov Model&#8217; (XHMM). \u00abEsto nos da la posibilidad, por primera vez, de realizar una prueba de una muestra de sangre y compararla con un genoma de referencia para buscar mutaciones y peque\u00f1as variaciones del n\u00famero de copias en los pacientes\u00bb, dijo el doctor Buxbaum.<\/p>\n<p>Estos expertos aplicaron este m\u00e9todo para analizar una base de datos de 431 casos de trastorno del espectro autista y 379 controles emparejados, lo que hace un total de 810 individuos. Los autores del estudio encontraron 803 supresiones de genes en el grupo de ASD y 583 deleciones en el grupo de control, siendo el grupo de ASD los que registraban una mayor probabilidad de tener m\u00faltiples peque\u00f1as deleciones.<\/p>\n<p>\u00abAhora se sabe que el n\u00famero de copias del gen imperfecto es una de las principales fuentes de variabilidad entre las personas. Una de las razones por las que somos diferentes unos de otros es por adiciones o supresiones de genes, que a menudo son heredados -dijo&#8211;. Pero de las supresiones adicionales que vemos en ASD no todas se deben a la herencia gen\u00e9tica. Algunas ocurren durante el desarrollo del \u00f3vulo o del espermatozoide y las supresiones que se desarrollan de esta manera tienden a ser asociadas con el trastorno\u00bb.<\/p>\n<p>Luego, los investigadores examinaron las deleciones que encontraron en el grupo autista y encontraron que una proporci\u00f3n significativa de ellas estaban relacionadas con la autofagia, un proceso clave que mantiene las c\u00e9lulas sanas mediante la sustituci\u00f3n de las membranas y los org\u00e1nulos.<\/p>\n<p>\u00abHay una buena raz\u00f3n para creer que la autofagia es muy importante para el desarrollo del cerebro porque el cerebro produce muchas m\u00e1s sinapsis de las que necesita y el exceso debe ser recortado. Si son demasiadas o muy pocas, las sinapsis no realizan el trabajo de comunicaci\u00f3n muy bien. Podr\u00eda significar que algunas conexiones sin\u00e1pticas vienen demasiado tarde y no pueden consolidarse adecuadamente\u00bb, baraj\u00f3 Buxbaum.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Con una potente tecnolog\u00eda de secuenciaci\u00f3n gen\u00e9tica, un equipo de investigadores, dirigido por cient\u00edficos de la Escuela de Medicina Icahn en el Hospital Monte Sina\u00ed, en Nueva York, Estados Unidos, escaneo el genoma de centenares de personas y descubri\u00f3 que las diagnosticadas con trastorno del espectro autista (ASD, en sus siglas en ingl\u00e9s) eran m\u00e1s [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":24542,"comment_status":"","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_uag_custom_page_level_css":"","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":"","background-image":"","background-repeat":"repeat","background-position":"center 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