eprintid: 10092027 rev_number: 22 eprint_status: archive userid: 608 dir: disk0/10/09/20/27 datestamp: 2020-02-26 14:12:51 lastmod: 2021-09-20 22:33:03 status_changed: 2020-02-26 14:12:51 type: article metadata_visibility: show creators_name: Mòdol-Caballero, G creators_name: Herrando-Grabulosa, M creators_name: García-Lareu, B creators_name: Solanes, N creators_name: Verdés, S creators_name: Osta, R creators_name: Francos-Quijorna, I creators_name: López-Vales, R creators_name: Calvo, AC creators_name: Bosch, A creators_name: Navarro, X title: Gene therapy for overexpressing Neuregulin 1 type I in skeletal muscles promotes functional improvement in the SOD1G93A ALS mice ispublished: pub divisions: UCL divisions: B02 divisions: C08 divisions: D77 keywords: Amyotrophic lateral sclerosis, ErbB receptors, Motoneuron, Motor function, Neuregulin 1, Neuromuscular junction, Spinal cord note: © 2020 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/BY/4.0/). abstract: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting motoneurons (MNs), with no effective treatment currently available. The molecular mechanisms that are involved in MN death are complex and not fully understood, with partial contributions of surrounding glial cells and skeletal muscle to the disease. Neuregulin 1 (NRG1) is a trophic factor highly expressed in MNs and neuromuscular junctions. Recent studies have suggested a crucial role of the isoform I (NRG1-I) in the collateral reinnervation process in skeletal muscle, and NRG1-III in the preservation of MNs in the spinal cord, opening a window for developing novel therapies for neuromuscular diseases like ALS. In this study, we overexpressed NRG1-I widely in the skeletal muscles of the SOD1G93A transgenic mouse. The results show that NRG1 gene therapy activated the survival pathways in muscle and spinal cord, increasing the number of surviving MNs and neuromuscular junctions and reducing the astroglial reactivity in the spinal cord of the treated SOD1G93A mice. Furthermore, NRG1-I overexpression preserved motor function and delayed the onset of clinical disease. In summary, our data indicates that NRG1 plays an important role on MN survival and muscle innervation in ALS, and that viral-mediated overexpression of NRG1 isoforms may be considered as a promising approach for ALS treatment. date: 2020-02-04 date_type: published official_url: http://dx.doi.org/10.1016/j.nbd.2020.104793 oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 1751032 doi: 10.1016/j.nbd.2020.104793 pii: S0969-9961(20)30068-1 lyricists_name: Modol Caballero, Guillem lyricists_id: GMODO51 actors_name: Modol Caballero, Guillem actors_id: GMODO51 actors_role: owner full_text_status: public publication: Neurobiology of Disease volume: 137 article_number: 104793 event_location: United States citation: Mòdol-Caballero, G; Herrando-Grabulosa, M; García-Lareu, B; Solanes, N; Verdés, S; Osta, R; Francos-Quijorna, I; ... Navarro, X; + view all <#> Mòdol-Caballero, G; Herrando-Grabulosa, M; García-Lareu, B; Solanes, N; Verdés, S; Osta, R; Francos-Quijorna, I; López-Vales, R; Calvo, AC; Bosch, A; Navarro, X; - view fewer <#> (2020) Gene therapy for overexpressing Neuregulin 1 type I in skeletal muscles promotes functional improvement in the SOD1G93A ALS mice. Neurobiology of Disease , 137 , Article 104793. 10.1016/j.nbd.2020.104793 <https://doi.org/10.1016/j.nbd.2020.104793>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10092027/3/Modol%20Caballero_1-s2.0-S0969996120300681-main.pdf