{"id":25563,"date":"2025-03-31T13:04:18","date_gmt":"2025-03-31T11:04:18","guid":{"rendered":"https:\/\/idibell.cat\/en\/?p=25563"},"modified":"2025-03-31T13:04:18","modified_gmt":"2025-03-31T11:04:18","slug":"gene-therapy-reverses-the-symptoms-of-a-rare-neurological-disease-in-animal-models","status":"publish","type":"post","link":"https:\/\/idibell.cat\/en\/2025\/03\/gene-therapy-reverses-the-symptoms-of-a-rare-neurological-disease-in-animal-models\/","title":{"rendered":"Gene therapy reverses the symptoms of a rare neurological disease in animal models"},"content":{"rendered":"

Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare childhood disease that mainly affects the white matter of the brain. Among other symptoms, it is characterized by macrocephaly, inability to coordinate motor movements, and epilepsy. More than 75% of diagnosed cases are due to mutations in the MLC1<\/em> gene, which encodes a protein located in the membrane of astrocytes, a type of brain cell. This protein is essential for the regulation of water and ions present in the brain, but it is not yet well understood how it works.<\/p>\n

In this research, the team coordinated by Dra. Assumpci\u00f3 Bosch, from the Department of Biochemistry and Molecular Biology and the Institute of Neurosciences of the UAB (INc-UAB), in collaboration with researchers\u00a0 from the Physiology and pathology of the functional glia-neuron relationship<\/a> group\u00a0 of IDIBELL, led by Dr. Ra\u00fal Est\u00e9vez, has administered a viral vector with the MLC1<\/em> healthy gene in animal models of the disease with the aim of recovering the correct activity of the protein. <\/em>The results have demonstrated the suitability of the treatment, since the expression of the gene has been maintained in the brain for a year, normalizing the physiological alterations of the brain and reversing the motor problems of the treated mice.<\/p>\n

The study, published in the journal Molecular Therapy<\/em><\/a>, <\/em>represents “an important advance, as it suggests that gene therapy could be effective even in advanced stages of the disease<\/strong><\/em>,” explains Alejandro Brao, researcher at the Department of Biochemistry and Molecular Biology and the INc-UAB, and first author of the article.<\/p>\n

“The next steps will be to identify the best gene therapy vector for clinical application, determine the minimum dose needed and carry out biosafety and biodistribution studies in larger animal models<\/em>,” adds Dra. Assumpci\u00f3 Bosch, coordinator of the study.<\/p>\n

The research results could not only open new avenues for treating patients with MLC, but also highlight the potential of gene therapy for the treatment of rare neurological diseases through strategies aimed at restoring the expression of affected genes.<\/p>\n

 <\/p>\n

\u00a0<\/em><\/p>\n

\u00a0<\/em><\/p>\n

The Bellvitge Biomedical Research Institute (IDIBELL) is a research center established in 2004 specialized in cancer, neuroscience, translational medicine, and regenerative medicine. It counts on a team of more than 1.500 professionals who, from 73 research groups, publish more than 1.400 scientific articles per year. IDIBELL is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona, \u200b\u200band the City Council of L’Hospitalet de Llobregat.<\/em><\/p>\n

IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare childhood disease that mainly affects the white matter of the brain. Among other symptoms, it is characterized by macrocephaly, inability to coordinate motor movements, and epilepsy. More than 75% of diagnosed cases are due to mutations in the MLC1 gene, which encodes a protein located in […]<\/p>\n","protected":false},"author":8,"featured_media":25565,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","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":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[301,188,287],"tags":[],"class_list":["post-25563","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neuroscience-area","category-neuroscience-program","category-physiology-and-pathology-of-the-functional-relationship-between-glia-and-neurons"],"publishpress_future_action":{"enabled":false,"date":"2025-04-09 22:52:42","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/25563","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/comments?post=25563"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/25563\/revisions"}],"predecessor-version":[{"id":25564,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/25563\/revisions\/25564"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media\/25565"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media?parent=25563"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/categories?post=25563"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/tags?post=25563"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}