Journal of Neurology

, Volume 264, Issue 3, pp 541–553 | Cite as

Reduced serum myostatin concentrations associated with genetic muscle disease progression

  • Peter M. BurchEmail author
  • Oksana Pogoryelova
  • Joe Palandra
  • Richard Goldstein
  • Donald Bennett
  • Lori Fitz
  • Michela Guglieri
  • Chiara Marini Bettolo
  • Volker Straub
  • Teresinha Evangelista
  • Hendrik Neubert
  • Hanns Lochmüller
  • Carl Morris
Original Communication


Myostatin is a highly conserved protein secreted primarily from skeletal muscle that can potently suppress muscle growth. This ability to regulate skeletal muscle mass has sparked intense interest in the development of anti-myostatin therapies for a wide array of muscle disorders including sarcopenia, cachexia and genetic neuromuscular diseases. While a number of studies have examined the circulating myostatin concentrations in healthy and sarcopenic populations, very little data are available from inherited muscle disease patients. Here, we have measured the myostatin concentration in serum from seven genetic neuromuscular disorder patient populations using immunoaffinity LC–MS/MS. Average serum concentrations of myostatin in all seven muscle disease patient groups were significantly less than those measured in healthy controls. Furthermore, circulating myostatin concentrations correlated with clinical measures of disease progression for five of the muscle disease patient populations. These findings greatly expand the understanding of myostatin in neuromuscular disease and suggest its potential utility as a biomarker of disease progression.


Myostatin Neuromuscular disease Biomarker Mass spectrometry 



This work was supported by the EU funded projects BIO-NMD (No.241665), Neuromics (No. 305121) and RD-Connect (305444) and by the Medical Research Council (MRC) Centre for Neuromuscular Diseases Biobanks (Newcastle) which are part of EuroBioBank; we are grateful to Dan Cox and Mojgan Reza for technical support at the biobank and Karen Bettinson for support with phenotype data. We thank the Jain foundation for providing the LGMD2B patient samples and their helpful comments. We thank the Predictive Safety Testing Consortium of the Critical Path Institute for their contribution of healthy control serum samples.

Compliance with ethical standards

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical standards

All studies involving human samples were conducted in accordance with the Declaration of Helsinki on Ethical Principles for Medical Research Involving Human Subjects and in accordance with a protocol which was approved by the local Institutional Review Board. All animals were handled in compliance with the NIH and institutional guidelines that were approved by the Institutional Animal Care and Use Committee Pfizer, Inc (Groton, CT, USA).

Supplementary material

415_2016_8379_MOESM1_ESM.docx (211 kb)
Supplementary material 1 (DOCX 210 kb)


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Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Peter M. Burch
    • 1
    Email author
  • Oksana Pogoryelova
    • 2
  • Joe Palandra
    • 3
  • Richard Goldstein
    • 1
  • Donald Bennett
    • 4
  • Lori Fitz
    • 4
  • Michela Guglieri
    • 2
  • Chiara Marini Bettolo
    • 2
  • Volker Straub
    • 2
  • Teresinha Evangelista
    • 2
  • Hendrik Neubert
    • 3
  • Hanns Lochmüller
    • 2
  • Carl Morris
    • 4
    • 5
  1. 1.Worldwide Research and DevelopmentPfizer Inc.GrotonUSA
  2. 2.John Walton Muscular Dystrophy Research Centre, Institute of Genetic MedicineNewcastle UniversityNewcastle upon TyneUK
  3. 3.Worldwide Research and DevelopmentPfizer Inc.AndoverUSA
  4. 4.Worldwide Research and DevelopmentPfizer Inc.CambridgeUSA
  5. 5.Solid BiosciencesCambridgeUSA

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