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Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
  1. Carla Angelozzi
  1. Istituto di Genetica Medica - Università Cattolica, Roma, Italy
    1. Federica Borgo
    1. Istituto di Genetica Medica - Università Cattolica, Roma, Italy
      1. Francesco D Tiziano
      1. Istituto di Genetica Medica - Università Cattolica, Roma, Italy
        1. Andrea Martella
        1. Istituto di Genetica Medica - Università Cattolica, Roma, Italy
          1. Giovanni Neri
          1. Istituto di Genetica Medica - Università Cattolica, Roma, Italy
            1. Christina Brahe (cbrahe{at}rm.unicatt.it)
            1. Istituto di Genetica Medica - Università Cattolica, Roma, Italy

              Abstract

              Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by homozygous absence of the survival motor neuron gene (SMN1). All patients have at least one, usually two to four copies of the related SMN2 gene which, however, produce insufficient levels of functional SMN protein due to the exclusion of exon 7 in the majority of SMN2 transcripts. Here, we show that salbutamol, a beta2-adrenoceptor agonist, determines a rapid and significant increase in SMN2-full length mRNA and SMN protein in SMA fibroblasts, predominantly by promoting exon 7 inclusion in SMN2 transcripts. These data, together with previous clinical findings, provide a strong rationale to further investigate on the clinical efficacy of salbutamol in SMA patients.

              • salbutamol
              • spinal muscular atrophy
              • splicing
              • survival motor neuron gene

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