{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:37:51Z","timestamp":1791027471669,"version":"4.1.0"},"reference-count":11,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2010,6,9]]},"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the <jats:italic>SMN1<\/jats:italic> gene. Based on severity, three forms of SMA are recognised (types I\u2013III). All patients usually have 2\u20134 copies of a highly homologous gene (<jats:italic>SMN2<\/jats:italic>) which produces insufficient levels of functional survival motor neuron (SMN) protein. Recently, evidence has been provided that <jats:italic>SMN2<\/jats:italic> expression can be enhanced in vitro by salbutamol, a \u03b22-adrenergic agonist. This compound has also been shown to improve motor function of SMA patients in two different pilot trials.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aim<\/jats:title>\n                  <jats:p>To evaluate the in vivo molecular efficacy of salbutamol in SMA patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Twelve type II\u2013III patients took salbutamol orally for 6\u2005months. <jats:italic>SMN2<\/jats:italic> full length transcript levels were determined in peripheral blood leucocytes by absolute real-time PCR, at baseline and after 3 and 6\u2005months of treatment.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A significant and constant increase in <jats:italic>SMN2<\/jats:italic> full length transcript levels was detected; the response was directly proportional to <jats:italic>SMN2<\/jats:italic> gene copy number.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The data strongly support salbutamol as a candidate for treating SMA, and suggest that <jats:italic>SMN2<\/jats:italic> copy number may predict the molecular response to treatment and may be a useful randomisation parameter in a double blind placebo controlled clinical trial design.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.080366","type":"journal-article","created":{"date-parts":[[2010,9,13]],"date-time":"2010-09-13T23:18:19Z","timestamp":1284419899000},"page":"856-858","source":"Crossref","is-referenced-by-count":61,"title":["Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial 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