Characterization of sarcoplasmic reticulum Ca2+ ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

V. Guglielmi, A. Oosterhof, N. C. Voermans, R. Cardani, J. P. Molenaar, T. H. van Kuppevelt, G. Meola, B. G. van Engelen, G. Tomelleri, G. Vattemi

Research output: Contribution to journalArticlepeer-review


Sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA) pumps play the major role in lowering cytoplasmic calcium concentration in skeletal muscle by catalyzing the ATP-dependent transport of Ca2+ from the cytosol to the lumen of the sarcoplasmic reticulum (SR). Although SERCA abnormalities have been hypothesized to contribute to the dysregulation of intracellular Ca2+ homeostasis and signaling in muscle of patients with myotonic dystrophy (DM) and hypothyroid myopathy, the characterization of SERCA pumps remains elusive and their impairment is still unclear. We assessed the activity of SR Ca2+-ATPase, expression levels and fiber distribution of SERCA1 and SERCA2, and oligomerization of SERCA1 protein in muscle of patients with DM type 1 and 2, and with hypothyroid myopathy. Our data provide evidence that SR Ca2+ ATPase activity, protein levels and muscle fiber distribution of total SERCA1 and SERCA2, and SERCA1 oligomerization pattern are similar in patients with both DM1 and DM2, hypothyroid myopathy and in control subjects. We prove that SERCA1b, the neonatal isoform of SERCA1, is expressed at protein level in muscle of patients with DM2 and, in lower amount, of patients with DM1. Our present study demonstrates that SERCA function is not altered in muscle of patients with DM and with hypothyroid myopathy.

Original languageEnglish
JournalNeuromuscular Disorders
Publication statusAccepted/In press - Dec 16 2015


  • Brody myopathy
  • Hypothyroid myopathy
  • Myotonic dystrophy
  • Sarcoplasmic/endoplasmic reticulum Ca-ATPase 1 (SERCA1)
  • SERCA1b

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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