{"id":23517,"date":"2019-07-30T00:00:10","date_gmt":"2019-07-30T07:00:10","guid":{"rendered":"https:\/\/vermont.salk.edu\/?post_type=disclosure&#038;p=23517"},"modified":"2024-01-30T14:53:08","modified_gmt":"2024-01-30T22:53:08","slug":"finding-a-cause-of-neurodevelopmental-disorders","status":"publish","type":"disclosure","link":"https:\/\/www.salk.edu\/es\/news-release\/finding-a-cause-of-neurodevelopmental-disorders\/","title":{"rendered":"Encontrar una causa de los trastornos del neurodesarrollo"},"content":{"rendered":"<p>LA JOLLA\u2014Los trastornos del neurodesarrollo que surgen de mutaciones gen\u00e9ticas raras pueden causar una funci\u00f3n cognitiva at\u00edpica, discapacidad intelectual y retrasos en el desarrollo, pero no est\u00e1 claro por qu\u00e9 y c\u00f3mo sucede esto. Los cient\u00edficos sospecharon que una mutaci\u00f3n en un complejo de prote\u00ednas podr\u00eda ser la causa de un grupo de trastornos gen\u00e9ticos raros y, ahora, investigadores del Salk Institute han identificado el mecanismo molecular que vincula esta mutaci\u00f3n con el desarrollo anormal del sistema nervioso. Los hallazgos del equipo, publicados en <a href=\"https:\/\/www.cell.com\/molecular-cell\/fulltext\/S1097-2765(19)30480-0\" target=\"_blank\" rel=\"noopener\"><em>Molecular Cell<\/em><\/a> el 30 de julio de 2019, acercaron a los investigadores un paso m\u00e1s a la comprensi\u00f3n de los trastornos del neurodesarrollo, como el s\u00edndrome de Nicolaides-Baraitser y otros.<\/p>\n<div class=\"row\" style=\"\"><div class=\"col-md-12 col-md-push-0\"><div class=\"video-anchor\" id=\"video-VzntY6N-9XI\"><\/div><div class=\"embed-responsive embed-responsive-16by9\"> <iframe class=\"embed-responsive-item\" src=\"\/\/www.youtube.com\/embed\/VzntY6N-9XI?rel=0\" webkitallowfullscreen mozallowfullscreen allowfullscreen><\/iframe><\/div><!-- .embed-responsive --><\/div><!-- .col-md-*size --><\/div><!-- .\/row -->\n<p>\u201cPor primera vez, hemos podido caracterizar el mecanismo de una mutaci\u00f3n gen\u00e9tica conocida implicada en trastornos del neurodesarrollo\u201d, afirma el profesor adjunto. <a href=\"https:\/\/www.salk.edu\/es\/scientist\/diana-hargreaves\/\">Diana Hargreaves<\/a>, autor principal y titular de la C\u00e1tedra de Desarrollo Richard Heyman y Anne Daigle.<\/p>\n<figure id=\"attachment_23582\"  class=\"wp-caption alignright\"><a href=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves.jpg\"><img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"300\" class=\"image-responsive wp-image-23582 size-pr-300\" src=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-300x300.jpg\" alt=\"Neurons generated using the cell culture method described in the paper. \" srcset=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-300x300.jpg 300w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-150x150.jpg 150w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-768x768.jpg 768w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-767x767.jpg 767w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-147x147.jpg 147w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-458x458.jpg 458w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-585x585.jpg 585w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-553x553.jpg 553w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-750x750.jpg 750w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-945x945.jpg 945w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-400x400.jpg 400w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves-200x200.jpg 200w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><figcaption class=\"wp-caption-text\">Neuronas generadas mediante el m\u00e9todo de cultivo celular descrito en el art\u00edculo. <\/p>\n<p><a href=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves.jpg\">Haga clic aqu\u00ed<\/a> para obtener una imagen en alta resoluci\u00f3n.<\/p>\n<p>Cr\u00e9dito: Instituto Salk<\/figcaption><\/figure>\n<p>La causa ra\u00edz tiene que ver con un complejo de prote\u00ednas llamado complejo SWI\/SNF, que participa en la regulaci\u00f3n del ADN y, cuando muta, se asocia con el s\u00edndrome de Nicolaides-Baraitser, el s\u00edndrome de Coffin-Siris, el autismo e incluso algunos tipos de c\u00e1ncer. Estos complejos reempaquetan y remodelan el ADN en el n\u00facleo para permitir o impedir el acceso a los genes. Y, sin embargo, los cient\u00edficos no saben c\u00f3mo las mutaciones en subunidades individuales del complejo SWI\/SNF afectan su funci\u00f3n.<\/p>\n<p>\u201cBuscamos entender c\u00f3mo una \u00fanica mutaci\u00f3n en la subunidad SMARCA2 afectaba el desarrollo cerebral \u2014dice Fangjian Gao, primer autor del art\u00edculo y becario postdoctoral en Salk\u2014. Esper\u00e1bamos ver alg\u00fan efecto en las v\u00edas del neurodesarrollo, pero no est\u00e1bamos seguros de c\u00f3mo espec\u00edficamente.\u201d<\/p>\n<figure id=\"attachment_23521\"  class=\"wp-caption alignleft\"><img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"200\" class=\"img-responsive wp-image-23521 size-pr-300\" src=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-300x200.jpg\" alt=\"From left: Diana Hargreaves, Nicholas Elliott and Fangjian Gao.\" srcset=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-300x200.jpg 300w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-768x512.jpg 768w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-1024x683.jpg 1024w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-147x98.jpg 147w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-458x305.jpg 458w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-585x390.jpg 585w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-553x369.jpg 553w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-750x500.jpg 750w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-767x511.jpg 767w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-945x630.jpg 945w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-1250x833.jpg 1250w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl-400x267.jpg 400w, https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl.jpg 1500w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><figcaption class=\"wp-caption-text\">De izquierda a derecha: Diana Hargreaves, Nicholas Elliott y Fangjian Gao.<\/p>\n<p><a href=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/PR_Hargreaves_Gao_Elliott_551A1276_fnl.jpg\">Haga clic aqu\u00ed<\/a> para obtener una imagen en alta resoluci\u00f3n.<\/p>\n<p>Cr\u00e9dito: Instituto Salk<\/figcaption><\/figure>\n<p>Los cient\u00edficos recurrieron a cultivos celulares en una placa de laboratorio para modelar los patrones de crecimiento en c\u00e9lulas cerebrales afectadas en comparaci\u00f3n con c\u00e9lulas cerebrales normales. Utilizaron la t\u00e9cnica de edici\u00f3n gen\u00e9tica CRISPR para imitar la mutaci\u00f3n del gen SMARCA2 observada en el s\u00edndrome de Nicolaides-Baraitser. Notablemente, los investigadores descubrieron que las c\u00e9lulas sanas ten\u00edan una actividad m\u00ednima de SMARCA2. Sin embargo, las c\u00e9lulas con la mutaci\u00f3n mostraron un aumento dr\u00e1stico en la actividad de SMARCA2 y una capacidad significativamente deteriorada para generar precursores de neuronas, llamadas c\u00e9lulas progenitoras neurales. En este estado altamente activado, SMARCA2 afect\u00f3 la funci\u00f3n del complejo SWI\/SNF normal. Esto condujo a un efecto domin\u00f3 con cambios en la expresi\u00f3n g\u00e9nica que resultaron en un desarrollo cerebral anormal.<\/p>\n<p>\u201cAl comprender mejor esta mutaci\u00f3n en SMARCA2, hemos aprovechado lo que parece ser un proceso de desarrollo fundamental que podr\u00eda verse alterado en estados de enfermedad como el autismo o incluso el c\u00e1ncer\u201d, dice Hargreaves.<\/p>\n<p>Otros autores incluidos fueron Nicholas J. Elliott, Josephine Ho y Maxim N. Shokhirev, del Salk, junto con Alexzander Sharp de la Universidad de California en San Diego.<\/p>\n<p>El trabajo fue financiado por Helmsley Trust, los National Institutes of Health (9R35 GM128943-01 y R00 CA184043-03) y la V Foundation for Cancer Research (V2016-006).<\/p>","protected":false},"featured_media":23582,"template":"","faculty":[74],"disease-research":[124],"class_list":["post-23517","disclosure","type-disclosure","status-publish","has-post-thumbnail","hentry","faculty-diana-hargreaves","disease-research-neuroscience-and-neurological-disorders"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Finding a cause of neurodevelopmental disorders - Salk Institute for Biological Studies<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.salk.edu\/es\/news-release\/finding-a-cause-of-neurodevelopmental-disorders\/\" \/>\n<meta property=\"og:locale\" content=\"es_MX\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Finding a cause of neurodevelopmental disorders - Salk Institute for Biological Studies\" \/>\n<meta property=\"og:description\" content=\"LA JOLLA\u2014Neurodevelopmental disorders arising from rare genetic mutations can cause atypical cognitive function, intellectual disability, and developmental delays, yet it is unclear why and how this happens.\u00a0Scientists suspected a mutation in a complex of proteins could be the culprit for a group of rare genetic disorders and, now, Salk Institute researchers have identified the molecular mechanism linking this mutation with abnormal nervous system development. The team\u2019s findings, published in Molecular Cell on July 30, 2019, bring researchers one step closer to understanding neurodevelopmental disorders, such as Nicolaides-Baraitser syndrome and others.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.salk.edu\/es\/news-release\/finding-a-cause-of-neurodevelopmental-disorders\/\" \/>\n<meta property=\"og:site_name\" content=\"Salk Institute for Biological Studies\" \/>\n<meta property=\"article:modified_time\" content=\"2024-01-30T22:53:08+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2019\/07\/ScienceImage-hargreaves.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1024\" \/>\n\t<meta property=\"og:image:height\" content=\"1024\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"3 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/finding-a-cause-of-neurodevelopmental-disorders\\\/\",\"url\":\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/finding-a-cause-of-neurodevelopmental-disorders\\\/\",\"name\":\"Finding a cause of neurodevelopmental disorders - 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