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protein. The main pathological hallmark of SMA is the degeneration of lower motor neurons (MNs) with subsequent denervation and atrophy of skeletal muscle. However, increasing evidence indicates that low SMN levels not only are detrimental to the central nervous system (CNS) but also directly affect other peripheral tissues and organs, including skeletal muscle. To better understand the potential primary impact of SMN deficiency in muscle, we explored the cellular, ultrastructural, and molecular basis of SMA myopathy in the SMN\u03947 mouse model of severe SMA at an early postnatal period (P0-7) prior to muscle denervation and MN loss (preneurodegenerative [PND] stage). This period contrasts with the neurodegenerative (ND) stage (P8-14), in which MN loss and muscle atrophy occur. At the PND stage, we found that SMN\u22067 mice displayed early signs of motor dysfunction with overt myofiber alterations in the absence of atrophy. We provide essential new ultrastructural data on focal and segmental lesions in the myofibrillar contractile apparatus. These lesions were observed in association with specific myonuclear domains and included abnormal accumulations of actin-thin myofilaments, sarcomere disruption, and the formation of minisarcomeres. The sarcoplasmic reticulum and triads also exhibited ultrastructural alterations, suggesting decoupling during the excitation\u2013contraction process. Finally, changes in intermyofibrillar mitochondrial organization and dynamics, indicative of mitochondrial biogenesis overactivation, were also found. Overall, our results demonstrated that SMN deficiency induces early and MN loss-independent alterations in myofibers that essentially contribute to SMA myopathy. This strongly supports the growing body of evidence indicating the existence of intrinsic alterations in the skeletal muscle in SMA and further reinforces the relevance of this peripheral tissue as a key therapeutic target for the disease.<\/jats:p>","DOI":"10.3390\/ijms252212415","type":"journal-article","created":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T06:06:54Z","timestamp":1731996414000},"page":"12415","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["SMN Deficiency Induces an Early Non-Atrophic Myopathy with Alterations in the Contractile and Excitatory Coupling Machinery of Skeletal Myofibers in the SMN\u22067 Mouse Model of Spinal Muscular Atrophy"],"prefix":"10.3390","volume":"25","author":[{"given":"Mar\u00eda T.","family":"Berciano","sequence":"first","affiliation":[{"name":"Department of Molecular Biology, University of Cantabria, 39011 Santander, Spain"},{"name":"Health Research Institute Valdecilla (IDIVAL), 39011 Santander, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5153-1181","authenticated-orcid":false,"given":"Ala\u00f3","family":"Gatius","sequence":"additional","affiliation":[{"name":"Institut de Recerca Biom\u00e8dica de Lleida (IRBLleida), Universitat de Lleida, 25198 Lleida, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alba","family":"Puente-Bedia","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, University of Cantabria, 39011 Santander, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2412-6698","authenticated-orcid":false,"given":"Alexis","family":"Rufino-G\u00f3mez","sequence":"additional","affiliation":[{"name":"Department of Basic Medical Sciences, Institute of Biomedical Technologies (ITB), Universidad de La Laguna, 38200 San Cristobal de la Laguna, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7741-3223","authenticated-orcid":false,"given":"Olga","family":"Tarabal","sequence":"additional","affiliation":[{"name":"Institut de Recerca Biom\u00e8dica de Lleida (IRBLleida), Universitat de Lleida, 25198 Lleida, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8369-3118","authenticated-orcid":false,"given":"Jos\u00e9 C.","family":"Rodr\u00edguez-Rey","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, University of Cantabria, 39011 Santander, Spain"},{"name":"Health Research Institute Valdecilla (IDIVAL), 39011 Santander, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Calder\u00f3","sequence":"additional","affiliation":[{"name":"Institut de Recerca Biom\u00e8dica de Lleida (IRBLleida), Universitat de Lleida, 25198 Lleida, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Lafarga","sequence":"additional","affiliation":[{"name":"Health Research Institute Valdecilla (IDIVAL), 39011 Santander, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), 28029 Madrid, Spain"},{"name":"Department of Anatomy and Cell Biology, University of Cantabria, 39011 Santander, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0802-7975","authenticated-orcid":false,"given":"Olga","family":"Tapia","sequence":"additional","affiliation":[{"name":"Department of Basic Medical Sciences, Institute of Biomedical Technologies (ITB), Universidad de La Laguna, 38200 San Cristobal de la Laguna, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1097\/MOP.0b013e32833f3046","article-title":"Spinal muscular atrophy: A time for screening","volume":"22","author":"Prior","year":"2010","journal-title":"Curr. 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