{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T02:44:09Z","timestamp":1792896249470,"version":"4.5.0"},"reference-count":119,"publisher":"Oxford University Press (OUP)","issue":"20","license":[{"start":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T00:00:00Z","timestamp":1690416000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001279","name":"Great Ormond Street Hospital Charity","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001279","id-type":"DOI","asserted-by":"publisher"}]},{"name":"SPARKS Children\u2019s Medical Research Charity","award":["V5018"],"award-info":[{"award-number":["V5018"]}]},{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Academy of Medical Sciences and Association Fran\u00e7aise contre les Myopathies"},{"name":"Euan MacDonald Centre for Motor Neuron Disease Research and SMA Europe"},{"DOI":"10.13039\/501100012620","name":"Royal Holloway University of London","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012620","id-type":"DOI","asserted-by":"publisher"}]},{"name":"UK SMA Research Consortium"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Structural, functional and molecular cardiac defects have been reported in spinal muscular atrophy (SMA) patients and mouse models. Previous quantitative proteomics analyses demonstrated widespread molecular defects in the severe Taiwanese SMA mouse model. Whether such changes are conserved across different mouse models, including less severe forms of the disease, has yet to be established. Here, using the same high-resolution proteomics approach in the less-severe Smn2B\/\u2212 SMA mouse model, 277 proteins were found to be differentially abundant at a symptomatic timepoint (post-natal day (P) 18), 50 of which were similarly dysregulated in severe Taiwanese SMA mice. Bioinformatics analysis linked many of the differentially abundant proteins to cardiovascular development and function, with intermediate filaments highlighted as an enriched cellular compartment in both datasets. Lamin A\/C was increased in the cardiac tissue, whereas another intermediate filament protein, desmin, was reduced. The extracellular matrix (ECM) protein, elastin, was also robustly decreased in the heart of Smn2B\/\u2212 mice. AAV9-SMN1-mediated gene therapy rectified low levels of survival motor neuron protein and restored desmin levels in heart tissues of Smn2B\/\u2212 mice. In contrast, AAV9-SMN1 therapy failed to correct lamin A\/C or elastin levels. Intermediate filament proteins and the ECM have key roles in cardiac function and their dysregulation may explain cardiac impairment in SMA, especially since mutations in genes encoding these proteins cause other diseases with cardiac aberration. Cardiac pathology may need to be considered in the long-term care of SMA patients, as it is unclear whether currently available treatments can fully rescue peripheral pathology in SMA.<\/jats:p>","DOI":"10.1093\/hmg\/ddad121","type":"journal-article","created":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T16:11:56Z","timestamp":1690387916000},"page":"2950-2965","source":"Crossref","is-referenced-by-count":8,"title":["AAV9-mediated\n                    <i>SMN<\/i>\n                    gene therapy rescues cardiac desmin but not lamin A\/C and elastin dysregulation in\n                    <i>Smn<\/i>\n                    <i>2B\/\u2212<\/i>\n                    spinal muscular atrophy mice"],"prefix":"10.1093","volume":"32","author":[{"given":"Sharon J","family":"Brown","sequence":"first","affiliation":[{"name":"School of Pharmacy and Bioengineering, Keele University , Keele ST5 5BG , UK"},{"name":"Wolfson Centre for Inherited Neuromuscular Disease, TORCH Building, RJAH Orthopaedic Hospital , Oswestry SY10 7AG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darija","family":"\u0160olti\u0107","sequence":"additional","affiliation":[{"name":"School of Pharmacy and Bioengineering, Keele University , Keele ST5 5BG , UK"},{"name":"Wolfson Centre for Inherited Neuromuscular Disease, TORCH Building, RJAH Orthopaedic Hospital , Oswestry SY10 7AG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia A","family":"Synowsky","sequence":"additional","affiliation":[{"name":"BSRC Mass Spectrometry and Proteomics Facility, University of St Andrews , St Andrews KY16 9ST , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally L","family":"Shirran","sequence":"additional","affiliation":[{"name":"BSRC Mass Spectrometry and Proteomics Facility, University of St Andrews , St Andrews KY16 9ST , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellie","family":"Chilcott","sequence":"additional","affiliation":[{"name":"AGCTlab.org , Centre of Gene and Cell Therapy, Centre for Biomedical Sciences, Department of Biological Sciences, , Surrey TW20 0EX , UK"},{"name":"School of Life Sciences and the Environment, Royal Holloway University of London, Egham Hill, Egham , Centre of Gene and Cell Therapy, Centre for Biomedical Sciences, Department of Biological Sciences, , Surrey TW20 0EX , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah K","family":"Shorrock","sequence":"additional","affiliation":[{"name":"Edinburgh Medical School: Biomedical Sciences, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh , Edinburgh EH8 9XD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0306-5577","authenticated-orcid":false,"given":"Thomas H","family":"Gillingwater","sequence":"additional","affiliation":[{"name":"Edinburgh Medical School: Biomedical Sciences, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh , Edinburgh EH8 9XD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael J","family":"Y\u00e1\u00f1ez-Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"AGCTlab.org , Centre of Gene and Cell Therapy, Centre for Biomedical Sciences, Department of Biological Sciences, , Surrey TW20 0EX , UK"},{"name":"School of Life Sciences and the Environment, Royal Holloway University of London, Egham Hill, Egham , Centre of Gene and Cell Therapy, Centre for Biomedical Sciences, Department of Biological Sciences, , Surrey TW20 0EX , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Schneider","sequence":"additional","affiliation":[{"name":"Bertarelli Platform for Gene Therapy, Ecole Polytechnique F\u00e9d\u00e9rale de Lausanne (EPFL) , 1202 Geneva , Switzerland"},{"name":"Brain Mind Institute, Ecole Polytechnique F\u00e9d\u00e9rale de Lausanne (EPFL) , 1015 Lausanne , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3579-6403","authenticated-orcid":false,"given":"Melissa","family":"Bowerman","sequence":"additional","affiliation":[{"name":"Wolfson Centre for Inherited Neuromuscular Disease, TORCH Building, RJAH Orthopaedic Hospital , Oswestry SY10 7AG , UK"},{"name":"School of Medicine, Keele University , Keele ST5 5BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2858-869X","authenticated-orcid":false,"given":"Heidi R","family":"Fuller","sequence":"additional","affiliation":[{"name":"School of Pharmacy and Bioengineering, Keele University , Keele ST5 5BG , UK"},{"name":"Wolfson Centre for Inherited Neuromuscular Disease, TORCH Building, RJAH Orthopaedic Hospital , Oswestry SY10 7AG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,7,27]]},"reference":[{"key":"2023100414283329700_ref1","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"2023100414283329700_ref2","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s004390100473","article-title":"SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens","volume":"108","author":"Rochette","year":"2001","journal-title":"Hum. Genet."},{"key":"2023100414283329700_ref3","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/hmg\/9.2.259","article-title":"An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN","volume":"9","author":"Lorson","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"2023100414283329700_ref4","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldk\u00f6tter","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"2023100414283329700_ref5","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1080\/14656566.2019.1704732","article-title":"New treatments in spinal muscular atrophy: an overview of currently available data","volume":"21","author":"Ramdas","year":"2020","journal-title":"Expert. Opin. Pharmacother."},{"key":"2023100414283329700_ref6","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1007\/s00018-015-2106-9","article-title":"Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?","volume":"73","author":"Simone","year":"2016","journal-title":"Cell. Mol. Life Sci."},{"key":"2023100414283329700_ref7","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.pediatrneurol.2020.01.003","article-title":"Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease","volume":"109","author":"Yeo","year":"2020","journal-title":"Pediatr. Neurol."},{"key":"2023100414283329700_ref8","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1536\/ihj.37.239","article-title":"Electrocardiographic findings in children with spinal muscular atrophy","volume":"37","author":"Huang","year":"1996","journal-title":"Jpn. Heart J."},{"key":"2023100414283329700_ref9","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1159\/000006968","article-title":"Cardiac involvement in Werdnig-Hoffmann\u2019s spinal muscular atrophy","volume":"92","author":"Finsterer","year":"1999","journal-title":"Cardiology"},{"key":"2023100414283329700_ref10","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/PHM.0b013e31804b1d66","article-title":"Medical considerations of long-term survival of Werdnig-Hoffmann disease","volume":"86","author":"Bach","year":"2007","journal-title":"Am. J. Phys. Med. Rehabil."},{"key":"2023100414283329700_ref11","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/jmg.2008.057950","article-title":"Congenital heart disease is a feature of severe infantile spinal muscular atrophy","volume":"45","author":"Rudnik-Sch\u00f6neborn","year":"2008","journal-title":"J. Med. Genet."},{"key":"2023100414283329700_ref12","doi-asserted-by":"crossref","first-page":"3895","DOI":"10.1093\/hmg\/ddq300","article-title":"Early heart failure in the SMN\u03947 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery","volume":"19","author":"Bevan","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"2023100414283329700_ref13","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.yjmcc.2012.01.005","article-title":"Partial restoration of cardio-vascular defects in rescued severe model of spinal muscular atrophy","volume":"52","author":"Shababi","year":"2012","journal-title":"J. Mol. Cell. Cardiol."},{"key":"2023100414283329700_ref14","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1111\/joa.12793","article-title":"Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy","volume":"232","author":"Maxwell","year":"2018","journal-title":"J. Anat."},{"key":"2023100414283329700_ref15","doi-asserted-by":"crossref","first-page":"3515","DOI":"10.1093\/hmg\/ddz195","article-title":"Lamin A\/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy","volume":"28","author":"\u0160olti\u0107","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"2023100414283329700_ref16","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1002\/mus.27088","article-title":"Cardiac findings in pediatric patients with spinal muscular atrophy types 2 and 3","volume":"63","author":"Djordjevic","year":"2021","journal-title":"Muscle Nerve"},{"key":"2023100414283329700_ref17","doi-asserted-by":"crossref","first-page":"e0213680","DOI":"10.1371\/journal.pone.0213680","article-title":"Systemic nature of spinal muscular atrophy revealed by studying insurance claims","volume":"14","author":"Lipnick","year":"2019","journal-title":"PLoS One"},{"key":"2023100414283329700_ref18","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/s13023-017-0613-5","article-title":"Cardiac pathology in spinal muscular atrophy: a systematic review","volume":"12","author":"Wijngaarde","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"2023100414283329700_ref19","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1083\/jcb.200610053","article-title":"A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle","volume":"176","author":"Rajendra","year":"2007","journal-title":"J. Cell Biol."},{"key":"2023100414283329700_ref20","doi-asserted-by":"crossref","first-page":"3399","DOI":"10.1093\/hmg\/ddn234","article-title":"SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain","volume":"17","author":"Walker","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"2023100414283329700_ref21","doi-asserted-by":"crossref","first-page":"28846","DOI":"10.1038\/srep28846","article-title":"Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy","volume":"6","author":"Deguise","year":"2016","journal-title":"Sci. Rep."},{"key":"2023100414283329700_ref22","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13395-020-00232-7","article-title":"SMN-deficiency disrupts SERCA2 expression and intracellular Ca2+ signaling in cardiomyocytes from SMA mice and patient-derived iPSCs","volume":"10","author":"Khayrullina","year":"2020","journal-title":"Skelet. Muscle"},{"key":"2023100414283329700_ref23","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1101\/gad.974702","article-title":"miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs","volume":"16","author":"Mourelatos","year":"2002","journal-title":"Genes Dev."},{"key":"2023100414283329700_ref24","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1001\/jamaneurol.2015.0178","article-title":"Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy","volume":"72","author":"Ripolone","year":"2015","journal-title":"JAMA Neurol."},{"key":"2023100414283329700_ref25","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1007\/s12551-018-0443-2","article-title":"Intermediate filaments in cardiomyopathy","volume":"10","author":"Tsikitis","year":"2018","journal-title":"Biophys. 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Insights"},{"key":"2023100414283329700_ref47","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1186\/gm498","article-title":"Label-free proteomics identifies Calreticulin and GRP75\/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy","volume":"5","author":"Mutsaers","year":"2013","journal-title":"Genome Med."},{"key":"2023100414283329700_ref48","doi-asserted-by":"crossref","first-page":"4546","DOI":"10.1021\/pr500492j","article-title":"Label-free quantitative proteomic profiling identifies disruption of ubiquitin homeostasis as a key driver of Schwann cell defects in spinal muscular atrophy","volume":"13","author":"Aghamaleky Sarvestany","year":"2014","journal-title":"J. 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