{"id":83588,"date":"2021-04-22T09:00:15","date_gmt":"2021-04-22T07:00:15","guid":{"rendered":"https:\/\/ibecbarcelona.eu\/?p=83588"},"modified":"2021-04-21T13:43:38","modified_gmt":"2021-04-21T11:43:38","slug":"ibec-researchers-contribute-to-discover-the-cause-of-epilepsy-and-neurodegeneration-in-lafora-disease","status":"publish","type":"post","link":"https:\/\/ibecbarcelona.eu\/ca\/ibec-researchers-contribute-to-discover-the-cause-of-epilepsy-and-neurodegeneration-in-lafora-disease\/","title":{"rendered":"IBEC researchers contribute to discover the cause of epilepsy and neurodegeneration in Lafora disease"},"content":{"rendered":"<p><span data-contrast=\"auto\">La<\/span><span data-contrast=\"auto\">fora<\/span><span data-contrast=\"auto\"> disease is an inherited neurodegenerative <\/span><span data-contrast=\"auto\">condition<\/span><span data-contrast=\"auto\"> that initially develops with seizures in adolescence and evolves with progressive degeneration of the nervous system to death, about ten years after its onset. It is <\/span><span data-contrast=\"auto\">characterized<\/span><span data-contrast=\"auto\"> by the accumulation of abnormal glycogen aggregates called Lafora bodies<\/span><span data-contrast=\"auto\"> in the brain<\/span><span data-contrast=\"auto\">. There is currently no treatment<\/span><span data-contrast=\"auto\"> for this condition<\/span><span data-contrast=\"auto\">, although some therapies <\/span><span data-contrast=\"auto\">are being tested <\/span><span data-contrast=\"auto\">in clinical trials.\u00a0<\/span><span data-ccp-props=\"{}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\"><img decoding=\"async\" class=\"wp-image-83591 alignleft lazyload\" data-src=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Del-Rio-y-Hervera.jpg\" alt=\"\" width=\"408\" height=\"267\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Del-Rio-y-Hervera.jpg 540w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Del-Rio-y-Hervera-300x196.jpg 300w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Del-Rio-y-Hervera-150x98.jpg 150w\" data-sizes=\"(max-width: 408px) 100vw, 408px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 408px; --smush-placeholder-aspect-ratio: 408\/267;\" \/>Led <\/span><span data-contrast=\"auto\">by<\/span> <strong>Dr. Joan Guinovart<\/strong><b><span data-contrast=\"auto\">, <\/span><\/b><span data-contrast=\"auto\">emeritus <\/span><span data-contrast=\"auto\">professor of the University of Barcelona (UB) and also group leader of CIBERDEM, t<\/span><span data-contrast=\"auto\">he Metabolic Engineering <\/span><span data-contrast=\"auto\">lab at <\/span><span data-contrast=\"auto\">IRB Barcelona<\/span> <span data-contrast=\"auto\">has discovered that Lafora<\/span><span data-contrast=\"auto\"> bodies<\/span> <span data-contrast=\"auto\">that <\/span><span data-contrast=\"auto\">accumulate in <\/span><span data-contrast=\"auto\">astro<\/span><span data-contrast=\"auto\">glial<\/span> <span data-contrast=\"auto\">cells, <\/span><span data-contrast=\"auto\">which are <\/span><span data-contrast=\"auto\">essential for the proper functioning of the nervous system, are responsible for the <\/span><span data-contrast=\"auto\">epilepsy<\/span> <span data-contrast=\"auto\">and <\/span><span data-contrast=\"auto\">neurodegeneration associated with the disease.<\/span> <span data-contrast=\"auto\">IBEC researchers Arnau Hervera and <\/span><strong>Jos\u00e9 Antonio del R\u00edo<\/strong><span data-contrast=\"none\">;<\/span> <span data-contrast=\"none\">Group Leader of <\/span><span data-contrast=\"none\">the <\/span><a href=\"https:\/\/ibecbarcelona.eu\/research-groups\/Molecular+and+Cellular+Neurobiotechnology\" target=\"_blank\" rel=\"noopener\"><span data-contrast=\"none\">Molecular and Cellular Neurobiotechnology<\/span><\/a><span data-contrast=\"none\"> and <\/span><span data-contrast=\"none\">full professor <\/span><span data-contrast=\"none\">of the Department of Cell Biology, Physiology and Immunology of the UB<\/span><span data-contrast=\"none\">,<\/span> <span data-contrast=\"none\">associated member of the <\/span><span data-contrast=\"none\">Institute of Neurosciences<\/span><span data-contrast=\"none\">, <\/span><span data-contrast=\"none\">and <\/span><span data-contrast=\"none\">member of CIBERNED<\/span><span data-contrast=\"none\">,<\/span> <span data-contrast=\"auto\">also contributed to th<\/span><span data-contrast=\"auto\">is<\/span><span data-contrast=\"auto\"> work.<\/span><span data-ccp-props=\"{&quot;335551550&quot;:6,&quot;335551620&quot;:6}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\">For this study, <\/span><strong>Dr. Guinovart&#8217;s<\/strong> <span data-contrast=\"auto\">group generated a mouse model <\/span><span data-contrast=\"auto\">of Lafora<\/span><span data-contrast=\"auto\"> disease, in which they prevented glycogen from accumulating in <\/span><span data-contrast=\"auto\">astrogli<\/span><span data-contrast=\"auto\">al<\/span><span data-contrast=\"auto\"> cells. <\/span><span data-contrast=\"auto\">T<\/span><span data-contrast=\"auto\">hey found that these mice did not develop neurodegeneration.<\/span><span data-ccp-props=\"{}\">\u00a0<\/span><\/p>\n<blockquote><p><strong>&#8220;Our contribution to the study discriminates the particular relevance of the glycogen accumulation in astroglia and neurons in the appearance of the epileptic seizures in these mice models of the disease&#8221; <\/strong><strong>explain Hervera and Del R\u00edo.<\/strong><\/p><\/blockquote>\n<p>For years, it was believed that the disease was caused by the accumulation of Lafora bodies only in neurons, but now we have shown that neurodegeneration is caused by accumulations in glial cells, says <strong>Dr. Jordi Duran<\/strong>, co-director of the study.<\/p>\n<p>&#8220;This discovery has important implications for the design of treatments for the disease and we now intend to investigate the mechanism by which glycogen deposits cause this damage. We will also study the possible role of this pathological mechanism in other neurodegenerative diseases,&#8221; explains <strong>Dr. Duran<\/strong>.<\/p>\n<figure id=\"attachment_83594\" aria-describedby=\"caption-attachment-83594\" style=\"width: 660px\" class=\"wp-caption aligncenter\"><img decoding=\"async\" class=\"wp-image-83594 lazyload\" data-src=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Brain_Guinovart_Del-Rio.jpg\" alt=\"\" width=\"670\" height=\"484\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Brain_Guinovart_Del-Rio.jpg 1566w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Brain_Guinovart_Del-Rio-300x217.jpg 300w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Brain_Guinovart_Del-Rio-1024x740.jpg 1024w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Brain_Guinovart_Del-Rio-768x555.jpg 768w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Brain_Guinovart_Del-Rio-1536x1109.jpg 1536w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2021\/04\/Brain_Guinovart_Del-Rio-150x108.jpg 150w\" data-sizes=\"(max-width: 670px) 100vw, 670px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 670px; --smush-placeholder-aspect-ratio: 670\/484;\" \/><figcaption id=\"caption-attachment-83594\" class=\"wp-caption-text\">Lafora bodies in brain sections (hippocampus). Bodies that accumulate in the disease, disappear when the ability of astrocytes to produce glycogen is removed.<\/figcaption><\/figure>\n<h2><strong>A consortium supported by the association of affected families<\/strong><span data-ccp-props=\"{}\">\u00a0<\/span><\/h2>\n<p><span data-contrast=\"auto\">This project has been developed within the framework of a global consortium for the study of Lafora disease, coordinated by the University of Kentucky in the U<\/span><span data-contrast=\"auto\">S<\/span><span data-contrast=\"auto\">. <\/span><span data-contrast=\"auto\">In 2016, t<\/span><span data-contrast=\"auto\">he consortium received <\/span><span data-contrast=\"none\">$<\/span><span data-contrast=\"auto\">7.7 <\/span><span data-contrast=\"auto\">M<\/span><span data-contrast=\"auto\"> from NIH (U.S. <\/span><span data-contrast=\"auto\">National <\/span><span data-contrast=\"auto\">Institutes of Health) for <\/span><span data-contrast=\"auto\">a period of <\/span><span data-contrast=\"auto\">five years. The consortium was promoted by Chelsea&#8217;s Hope, an association of families<\/span><span data-contrast=\"auto\"> in the US <\/span><span data-contrast=\"auto\">affected by Lafora <\/span><span data-contrast=\"auto\">disease<\/span><span data-contrast=\"auto\">, which in 2014 brought together leading specialists to <\/span><span data-contrast=\"auto\">foster<\/span><span data-contrast=\"auto\"> research into the disease. <\/span><span data-contrast=\"none\">The study also involved the laborator<\/span><span data-contrast=\"none\">y led <\/span><strong>Prof. Matthew Gentry<\/strong><span data-contrast=\"none\"> (at the University of Kentucky).<\/span><span data-ccp-props=\"{}\">\u00a0<\/span><\/p>\n<p><span data-ccp-props=\"{}\">\u00a0<\/span><\/p>\n<p><strong>Reference article:\u00a0<\/strong><br \/>\n<span data-contrast=\"auto\">Jordi Duran, Arnau Hervera, Kia H <\/span><span data-contrast=\"auto\">Markussen<\/span><span data-contrast=\"auto\">, Olga <\/span><span data-contrast=\"auto\">Varea<\/span><span data-contrast=\"auto\">, Iliana L\u00f3pez-Soldado, Ramon C Sun, Jose Antonio del R\u00edo, Matthew S Gentry &amp; Joan J <\/span><span data-contrast=\"auto\">Guinovart<\/span><br \/>\n<strong>Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease.<\/strong> <i><span data-contrast=\"auto\">Brain <\/span><\/i><span data-contrast=\"auto\">(2021) DOI: <\/span><a href=\"https:\/\/doi.org\/10.1093\/brain\/awab110\" target=\"_blank\" rel=\"noopener\"><span data-contrast=\"none\">10.1093\/brain\/awab110<\/span><\/a><span data-ccp-props=\"{}\">\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<h3>The accumulation of abnormal glycogen in glial cells of the nervous system causes inflammation and degeneration of the brain. The study, led by IRB Barcelona and with contribution of Arnau Hervera and Jose Antonio del R\u00edo from IBEC, has been recently published in the journal Brain. <\/h3>\n","protected":false},"author":4,"featured_media":83600,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[25],"tags":[543],"post_formats":[],"class_list":["post-83588","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research-news","tag-jose-antonio-del-rio"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>IBEC researchers contribute to discover the cause of epilepsy and neurodegeneration in Lafora disease - Institute for Bioengineering of Catalonia<\/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:\/\/ibecbarcelona.eu\/ca\/ibec-researchers-contribute-to-discover-the-cause-of-epilepsy-and-neurodegeneration-in-lafora-disease\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"IBEC researchers contribute to discover the cause of epilepsy and neurodegeneration in Lafora disease - Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"og:description\" content=\"The accumulation of abnormal glycogen in glial cells of the nervous system causes inflammation and degeneration of the brain. 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