{"id":2173,"date":"2018-08-16T09:41:04","date_gmt":"2018-08-16T14:41:04","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=2173"},"modified":"2018-08-16T09:41:04","modified_gmt":"2018-08-16T14:41:04","slug":"lgmd-researcher-quattrocelli","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/es\/researcher-interview\/2018\/08\/16\/lgmd-researcher-quattrocelli\/","title":{"rendered":"INVESTIGADOR LGMD: Mattia Quattrocelli"},"content":{"rendered":"<p>LGMD \"Entrevista en el punto de mira de la investigaci\u00f3n\"<\/p>\n<p><strong>INVESTIGADOR LGMD<\/strong>:  Mattia Quattrocelli<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2018\/08\/Quattrocelli-Mattia.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-2174 alignright\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%27http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%27%20width%3D%27300%27%20height%3D%27225%27%20viewBox%3D%270%200%20300%20225%27%3E%3Crect%20width%3D%27300%27%20height%3D%27225%27%20fill-opacity%3D%220%22%2F%3E%3C%2Fsvg%3E\" data-orig-src=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2018\/08\/Quattrocelli-Mattia-300x225.png\" alt=\"\" width=\"300\" height=\"225\" \/><\/a><\/p>\n<p><strong>Afiliaci\u00f3n<\/strong>:  Laboratorio de McNally, Centro de Medicina Gen\u00e9tica, Facultad de Medicina Feinberg, Universidad Northwestern, Chicago, IL<\/p>\n<p><strong>Funci\u00f3n o cargo<\/strong>:  Becario postdoctoral<\/p>\n<p><strong>\u00bfQu\u00e9 educaci\u00f3n y formaci\u00f3n ha recibido para llegar a su puesto actual?<\/strong><\/p>\n<p>Tras licenciarme en biolog\u00eda celular y molecular en Italia, complet\u00e9 mi doctorado y mi primera estancia posdoctoral en la Universidad de Lovaina (B\u00e9lgica), donde estudi\u00e9 nuevas estrategias regenerativas para las distrofias musculares de Duchenne y de cinturas. Desde el verano de 2015, me un\u00ed a la Universidad Northwestern en Chicago, IL para mi segundo nombramiento postdoctoral, impulsado por el apoyo de la Asociaci\u00f3n de Distrofia Muscular y la formaci\u00f3n en biolog\u00eda muscular por el Consorcio Wellstone de Investigaci\u00f3n de la Distrofia Muscular.<\/p>\n<p><strong>\u00bfQu\u00e9 le llev\u00f3 a dedicarse a la investigaci\u00f3n y, en particular, al estudio de la distrofia muscular?<\/strong><\/p>\n<p>Me fascina la investigaci\u00f3n biom\u00e9dica y mi pasi\u00f3n diaria es investigar los mecanismos y desafiar las limitaciones de las propiedades biol\u00f3gicas. Me he centrado en la biolog\u00eda del m\u00fasculo y las distrofias musculares desde mi primera experiencia investigadora como estudiante universitario. El m\u00fasculo y el coraz\u00f3n son tejidos absolutamente fascinantes y a\u00fan no los comprendemos del todo. Junto con mi inter\u00e9s por la biolog\u00eda muscular, centrarme en las distrofias musculares es mi forma de intentar marcar la diferencia para las personas que viven con estas afecciones a trav\u00e9s de la investigaci\u00f3n cient\u00edfica.<\/p>\n<p><strong>\u00bfQu\u00e9 temas est\u00e1 estudiando?<\/strong><\/p>\n<p>Actualmente investigo los efectos moleculares y metab\u00f3licos de los esteroides glucocorticoides (prednisona, deflazacort) en el m\u00fasculo distr\u00f3fico. Los tratamientos con corticoides ayudan a los chicos con Duchenne a caminar durante un mayor periodo de tiempo, pero tambi\u00e9n inducen efectos secundarios adversos. Recientemente, la administraci\u00f3n pulsada de corticoides ha sido propuesta para mantener la eficacia mientras se reducen los efectos secundarios, aunque carecemos de mecanismos y comprensi\u00f3n b\u00e1sica de c\u00f3mo funcionan los reg\u00edmenes alternativos de corticoides. Adem\u00e1s, no existen indicaciones cl\u00ednicas de esteroides para ninguna otra distrofia, incluida la de cinturas. Estoy estudiando c\u00f3mo una dosis semanal de glucocorticoides mejora la funci\u00f3n muscular distr\u00f3fica mediante la expresi\u00f3n de genes espec\u00edficos y la utilizaci\u00f3n de nutrientes para obtener energ\u00eda. Mi objetivo es definir hasta qu\u00e9 punto este r\u00e9gimen alternativo de esteroides es aplicable a todas las distrofias musculares. Con este fin, estoy reuniendo ideas alentadoras de modelos animales de distrofias musculares de cinturas de extremidades, incluyendo modelos de LGMD tipos 2A, 2B y 2C, y de biomarcadores en ni\u00f1os con Duchenne.<\/p>\n<p><strong>\u00bfC\u00f3mo ayudar\u00e1 su trabajo a los pacientes? \u00bfTiene un car\u00e1cter m\u00e1s cient\u00edfico o podr\u00eda convertirse en un tratamiento para LGMD o MD en general?<\/strong><\/p>\n<p>Si la eficacia y la seguridad se confirman en pacientes distr\u00f3ficos (y todav\u00eda queda mucho trabajo por hacer en esa direcci\u00f3n), entonces mi investigaci\u00f3n tiene el potencial de informar directamente las indicaciones de esteroides en el tratamiento cl\u00ednico de pacientes con distrofia de cinturas de extremidades, Duchenne y otras distrofias musculares. Adem\u00e1s, la comprensi\u00f3n de los mecanismos moleculares y metab\u00f3licos de la acci\u00f3n de los esteroides en el m\u00fasculo proporcionar\u00e1 potencialmente a la comunidad cient\u00edfica nuevos objetivos farmacol\u00f3gicos putativos para aliviar o contrarrestar la progresi\u00f3n distr\u00f3fica.<\/p>\n<p><strong>\u00bfQu\u00e9 le gustar\u00eda que los pacientes y otras personas interesadas en la LGMD supieran sobre la investigaci\u00f3n (sus propios proyectos y sobre el campo en general)?<\/strong><\/p>\n<p>Ahora es un momento emocionante para la comunidad de la distrofia muscular, ya que muchos tratamientos novedosos (terapias g\u00e9nicas, terapias de deslizamiento de ex\u00f3n, nuevos f\u00e1rmacos antidegeneraci\u00f3n, reg\u00edmenes de esteroides alternativos) est\u00e1n pasando finalmente de los bancos de laboratorio a los ensayos cl\u00ednicos. Sin embargo, tenemos que seguir plenamente comprometidos con la investigaci\u00f3n de la patolog\u00eda muscular distr\u00f3fica hoy para seguir mejorando los tratamientos del ma\u00f1ana.<\/p>\n<p><strong>\u00bfQu\u00e9 le inspira a seguir trabajando en este campo? <\/strong><\/p>\n<p>Podr\u00eda dar una lista bastante aburrida y larga de razones, pero me limitar\u00e9 a tres fuentes de inspiraci\u00f3n para mi investigaci\u00f3n, enumeradas aqu\u00ed por orden de importancia: 1) la esperanza de mejorar los cuidados y la calidad de vida de todos los pacientes con distrofia muscular; 2) el contacto personal con los pacientes, sus familias y las asociaciones dedicadas, que creo que hacen una labor maravillosa cada d\u00eda para difundir informaci\u00f3n y apoyar a pacientes y familias; 3) los conocimientos cient\u00edficos que reunimos y las preguntas experimentales que nos planteamos despu\u00e9s de cada experimento.<\/p>\n<p><strong>\u00bfC\u00f3mo pueden los pacientes animarle y ayudarle en su trabajo?<\/strong><\/p>\n<p>Junto con sus familias y asociaciones, los pacientes distr\u00f3ficos ya est\u00e1n alentando y apoyando la investigaci\u00f3n proporcionando una verdadera motivaci\u00f3n para nuestro trabajo y apoyo financiero con la recaudaci\u00f3n de fondos. Tambi\u00e9n agradezco a los pacientes y a sus familias que compartan sus historias y contribuyan a la investigaci\u00f3n participando en estudios e iniciativas de cribado gen\u00e9tico.<\/p>\n<p>&nbsp;<\/p>\n<p>* Por favor, dale al LIKE, COMENTA y COMPARTE este post para ayudar a concienciar sobre la LGMD.<br \/>\n* Si desea m\u00e1s informaci\u00f3n sobre la distrofia muscular de cinturas o leer m\u00e1s \"Entrevistas en primer plano\", visite nuestro sitio web en <a href=\"https:\/\/l.facebook.com\/l.php?u=https%3A%2F%2Flgmd-info.org%2F&amp;h=AT3r2jGqNqzbMHsfA3WIfkDWdaioHGot1Y366vPk9pPvmfNr7zm-9mXQOnTY16ezM4_JIKlaBIVhPOPA0D58HK_6qaVbeLeguqpMm1oo0fxX7lEB5UDqEqGNTdfz-jwmecphQuyM\">https:\/\/www.lgmd-info.org\/<\/a><\/p>\n<p><a href=\"https:\/\/www.facebook.com\/hashtag\/curelgmd\">#CureLGMD<\/a><br \/>\n<a href=\"https:\/\/www.facebook.com\/hashtag\/lgmdday2018\">#LgmdDay2018<\/a><\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>LGMD \u201cSpotlight Interview on Research\u201d LGMD RESEARCHER: \u00a0Mattia Quattrocelli Affiliation:\u00a0 [&hellip;]<\/p>","protected":false},"author":1,"featured_media":2174,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[91,92],"tags":[],"class_list":["post-2173","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-researcher-interview","category-researcher"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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