{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T18:47:39Z","timestamp":1775155659030,"version":"3.50.1"},"reference-count":48,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T00:00:00Z","timestamp":1663200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is an inherited neuromuscular disease caused by survival motor neuron (SMN) protein deficiency. Insulin\u2010like growth factor\u2010I (IGF\u2010I) is a myotrophic and neurotrophic factor that has been reported to be dysregulated in in vivo SMA model systems. However, detailed analyses of the IGF\u2010I system in SMA patients are missing. In this study, we analyzed the components of the IGF\u2010I system in serum and archived skeletal muscle biopsies of SMA patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Serum IGF\u2010I, IGF binding protein (IGFBP)\u20103, and IGFBP\u20105 levels were analyzed in 11 SMA patients and 13 healthy children by immunoradiometric and enzyme\u2010linked immunosorbent assays. The expression of IGF\u2010I, IGF\u2010I receptor, and IGFBP\u20105 proteins was investigated by immunofluorescence analysis in the archived skeletal muscle biopsies of nine SMA patients, six patients with non\u2010SMA\u2010related neuromuscular disease and atrophic fibers in muscle biopsy, and four controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A significant decrease in IGF\u2010I levels (mean\u2009\u00b1\u2009SD: \u22121.39\u2009\u00b1\u20091.46 vs. 0.017\u2009\u00b1\u20090.83, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.02) and increase in IGFBP\u20105 levels (mean\u2009\u00b1\u2009SD: 2358.5\u2009\u00b1\u20091617.4\u00a0ng\/mL vs. 1003.4\u2009\u00b1\u2009274.3\u00a0ng\/mL, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.03) were detected in serum samples of SMA patients compared to healthy controls. Increased expression of IGF\u2010I, IGF\u2010I receptor, and IGFBP\u20105 was detected in skeletal muscle biopsies of SMA patients and non\u2010SMA neuromuscular diseases, indicating atrophy\u2010specific alterations in the pathway.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Our findings suggested that the components of the IGF\u2010I system are altered in SMA patients at both the systemic and tissue\u2010specific levels.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27715","type":"journal-article","created":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T05:43:24Z","timestamp":1662097404000},"page":"631-638","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Alterations in insulin\u2010like growth factor system in spinal muscular atrophy"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3093-4088","authenticated-orcid":false,"given":"Ayse Yesbek","family":"Kaymaz","sequence":"first","affiliation":[{"name":"Department of Medical Biology Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sevgi Kostel","family":"Bal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neurology Unit Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4206-8332","authenticated-orcid":false,"given":"Gamze","family":"Bora","sequence":"additional","affiliation":[{"name":"Department of Medical Biology Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beril","family":"Talim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Pathology Unit Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alev","family":"Ozon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayfer","family":"Alikasifoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haluk","family":"Topaloglu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neurology Unit Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hayat Erdem","family":"Yurter","sequence":"additional","affiliation":[{"name":"Department of Medical Biology Hacettepe University, Faculty of Medicine  Ankara 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