{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T11:44:35Z","timestamp":1787226275437,"version":"build-2736575974"},"reference-count":52,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T00:00:00Z","timestamp":1632096000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T00:00:00Z","timestamp":1632096000000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T00:00:00Z","timestamp":1632096000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP12116"],"award-info":[{"award-number":["GGP12116"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2021,9,13]]},"abstract":"<jats:sec id=\"abs1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration of the second motor neuron. The phenotype ranges from very severe to very mild forms. All patients have the homozygous loss of the\n                      <jats:italic>SMN1<\/jats:italic>\n                      gene and a variable number of\n                      <jats:italic>SMN2<\/jats:italic>\n                      (generally 2\u20134 copies), inversely related to the severity. The amazing results of the available treatments have made compelling the need of prognostic biomarkers to predict the progression trajectories of patients. Besides the\n                      <jats:italic>SMN2<\/jats:italic>\n                      products, few other biomarkers have been evaluated so far, including some miRs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"abs2\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      We performed whole miRNome analysis of muscle samples of patients and controls (14 biopsies and 9 cultures). The levels of muscle differentially expressed miRs were evaluated in serum samples (51 patients and 37 controls) and integrated with\n                      <jats:italic>SMN2<\/jats:italic>\n                      copies,\n                      <jats:italic>SMN2<\/jats:italic>\n                      full-length transcript levels in blood and age (SMA-score).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"abs3\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Over 100 miRs were differentially expressed in SMA muscle; 3 of them (hsa-miR-181a-5p, -324-5p, -451a; SMA-miRs) were significantly upregulated in the serum of patients. The severity predicted by the SMA-score was related to that of the clinical classification at a correlation coefficient of 0.87 (p&lt;10\n                      <jats:sup>-5<\/jats:sup>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"abs4\">\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>miRNome analyses suggest the primary involvement of skeletal muscle in SMA pathogenesis. The SMA-miRs are likely actively released in the blood flow; their function and target cells require to be elucidated. The accuracy of the SMA-score needs to be verified in replicative studies: if confirmed, its use could be crucial for the routine prognostic assessment, also in presymptomatic patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"abs5\">\n                    <jats:title>Funding:<\/jats:title>\n                    <jats:p>Telethon Italia (grant #GGP12116).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.7554\/elife.68054","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T08:01:26Z","timestamp":1632124886000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.68054","source":"Crossref","is-referenced-by-count":28,"title":["SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples"],"prefix":"10.7554","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9028-012X","authenticated-orcid":true,"given":"Emanuela","family":"Abiusi","sequence":"first","affiliation":[{"name":"Department of Life Sciences and Public Health, Section of Genomic Medicine, Universit\u00e0 cattolica del Sacro Cuore","place":["Roma, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0682-3916","authenticated-orcid":true,"given":"Paola","family":"Infante","sequence":"first","affiliation":[{"name":"Center For Life Nano Science@Sapienza, Istituto Italiano di Tecnologia; Department of Molecular Medicine, Universit\u00e0 degli Studi di Roma \"La Sapienza\", Roma, Italy","place":["Roma, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6863-6687","authenticated-orcid":true,"given":"Cinzia","family":"Cagnoli","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Epileptology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy","place":["Roma, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1032-5496","authenticated-orcid":true,"given":"Ludovica","family":"Lospinoso Severini","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Universit\u00e0 degli Studi di Roma \"La Sapienza\"","place":["Roma, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Pane","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. 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