{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T21:36:02Z","timestamp":1793050562459,"version":"4.5.0"},"reference-count":53,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"content-version":"vor","delay-in-days":58,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004263","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado do Rio Grande do Sul","doi-asserted-by":"publisher","award":["22\/2551-0000657-4"],"award-info":[{"award-number":["22\/2551-0000657-4"]}],"id":[{"id":"10.13039\/501100004263","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundo de Incentivo \u00e0 Pesquisa e Eventos-Hospital de Cl\u00ednicas de Porto Alegre","award":["2020-0731"],"award-info":[{"award-number":["2020-0731"]}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["PROEX: 0730\/2020"],"award-info":[{"award-number":["PROEX: 0730\/2020"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The identification of biomarkers for spinal muscular atrophy is crucial for predicting disease progression, severity, and response to new disease-modifying therapies. This study aimed to investigate the role of serum levels of myostatin and follistatin as biomarkers for spinal muscular atrophy, considering muscle atrophy secondary to denervation as the main clinical manifestation of the disease. The study evaluated the differential gene expression of myostatin and follistatin in a lesional model of gastrocnemius denervation in mice, as well as in a meta-analysis of three datasets in transgenic mice models of spinal muscular atrophy, and in two studies involving humans with spinal muscular atrophy. Subsequently, a case-control study involving 27 spinal muscular atrophy patients and 27 controls was conducted, followed by a 12-month cohort study with 25 spinal muscular atrophy cases. Serum levels of myostatin and follistatin were analysed using enzyme-linked immunosorbent assay at a single centre in southern Brazil. Skeletal muscle gene expression of myostatin decreased and of follistatin increased following lesional muscle denervation in mice, consistent with findings in the spinal muscular atrophy transgenic mice meta-analysis and in the iliopsoas muscle of five patients with spinal muscular atrophy type 1. Median serum myostatin levels were significantly lower in spinal muscular atrophy patients (98\u2005pg\/mL; 5\u2013157) compared to controls (412\u2005pg\/mL; 299\u2013730) (P &amp;lt; 0.001). Lower myostatin levels were associated with greater disease severity based on clinician-rated outcomes (Rho = 0.493\u20130.812; P &amp;lt; 0.05). After 12 months, there was a further reduction in myostatin levels among spinal muscular atrophy cases (P = 0.021). Follistatin levels did not differ between cases and controls, and no significant changes were observed over time. The follistatin:myostatin ratio was significantly increased in spinal muscular atrophy subjects and inversely correlated with motor severity. Serum myostatin levels show promise as a novel biomarker for evaluating the severity and progression of spinal muscular atrophy. The decrease in myostatin levels and the subsequent favourable environment for muscle growth may be attributed to denervation caused by motor neuron dysfunction.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae062","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T02:14:14Z","timestamp":1709172854000},"source":"Crossref","is-referenced-by-count":15,"title":["Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy"],"prefix":"10.1093","volume":"6","author":[{"given":"Ana Let\u00edcia Amorim","family":"de Albuquerque","sequence":"first","affiliation":[{"name":"Graduate Program in Medicine, Medical Sciences, Federal University of Rio Grande do Sul , Porto Alegre 90035-003 , Brazil"},{"name":"Clinical Neurogenetics research group, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00falia Kersting","family":"Chadanowicz","sequence":"additional","affiliation":[{"name":"Clinical Neurogenetics research group, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna C\u00e2mara","family":"Giudicelli","sequence":"additional","affiliation":[{"name":"Bioinformatics core, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"},{"name":"Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul , Porto Alegre 91501-970 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Lucia Portella","family":"Staub","sequence":"additional","affiliation":[{"name":"Clinical Neurogenetics research group, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur Carpeggiani","family":"Weber","sequence":"additional","affiliation":[{"name":"Clinical Neurogenetics research group, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordana Miranda De Souza","family":"Silva","sequence":"additional","affiliation":[{"name":"Graduate Program in Medicine, Medical Sciences, Federal University of Rio Grande do Sul , Porto Alegre 90035-003 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele Michelin","family":"Becker","sequence":"additional","affiliation":[{"name":"Child Neurology Unit, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thayne Woycinck","family":"Kowalski","sequence":"additional","affiliation":[{"name":"Bioinformatics core, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"},{"name":"Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul , Porto Alegre 91501-970 , Brazil"},{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Siebert","sequence":"additional","affiliation":[{"name":"Unit of Laboratorial Research, Experimental Research Center, Hospital de Cl\u00ednicas de Porto Alegre (HCPA) , Porto Alegre 90035-007 , Brazil"},{"name":"Graduate Program in Gastroenterology and Hepatology, Federal University of Rio Grande do Sul , Porto Alegre 90035-003 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas Alex Morales","family":"Saute","sequence":"additional","affiliation":[{"name":"Graduate Program in Medicine, Medical Sciences, Federal University of Rio Grande do Sul , Porto Alegre 90035-003 , Brazil"},{"name":"Clinical Neurogenetics research group, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"},{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre , Porto Alegre 90035-007 , Brazil"},{"name":"Department of Internal Medicine, Federal University of Rio Grande do Sul , Porto Alegre 90035-003 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,2,28]]},"reference":[{"issue":"4","key":"2024043010115321200_fcae062-B1","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal muscular atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol Clin."},{"issue":"7","key":"2024043010115321200_fcae062-B2","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","article-title":"Newborn and carrier screening for spinal muscular atrophy","volume":"152A","author":"Prior","year":"2010","journal-title":"Am J Med Genet 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