SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

Valeria Guglielmi, Gaetano Vattemi, Francesca Gualandi, Nicol C. Voermans, Matteo Marini, Chiara Scotton, Elena Pegoraro, Arie Oosterhof, Magdolna Kósa, Erno Zádor, Enza Maria Valente, Domenico De Grandis, Marcella Neri, Valentina Codemo, Antonio Novelli, Toin H. van Kuppevelt, Bruno Dallapiccola, Baziel G. van Engelen, Alessandra Ferlini, Giuliano Tomelleri

Research output: Contribution to journalArticlepeer-review


Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca2+-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), from patients without mutations, Brody syndrome (BS). We performed a detailed study of SERCA1 protein expression in muscle of patients with BD and BS, and evaluated the alternative splicing of SERCA1 in primary cultures of normal human muscle and in infant muscle. SERCA1 reactivity was observed in type 2 muscle fibers of patients with and without ATP2A1 mutations and staining intensity was similar in patients and controls. Immunoblot analysis showed a significant reduction of SERCA1 band in muscle of BD patients. In addition we demonstrated that the wild type and mutated protein exhibits similar solubility properties and that RIPA buffer improves the recovery of the wild type and mutated SERCA1 protein. We found that SERCA1b, the SERCA1 neonatal form, is the main protein isoform expressed in cultured human muscle fibers and infant muscle. Finally, we identified two novel heterozygous mutations within exon 3 of the ATP2A1 gene from a previously described patient with BD.

Original languageEnglish
Pages (from-to)162-169
Number of pages8
JournalMolecular Genetics and Metabolism
Issue number1-2
Publication statusPublished - Sep 2013


  • ATP2A1 gene
  • Brody disease
  • Brody syndrome
  • Sarcoplasmic/endoplasmic reticulum Ca-ATPase 1 (SERCA1)

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Medicine(all)


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