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Reduced serum myostatin concentrations associated with genetic muscle disease progression

Lookup NU author(s): Dr Oksana Pogoryelova, Dr Michela Guglieri, Dr Chiara Marini Bettolo, Professor Volker Straub, Dr Teresinha Evangelista, Professor Hanns Lochmuller

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Abstract

© 2017, Springer-Verlag Berlin Heidelberg. All Right Reserved. 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.


Publication metadata

Author(s): Burch PM, Pogoryelova O, Palandra J, Goldstein R, Bennett D, Fitz L, Guglieri M, Bettolo CM, Straub V, Evangelista T, Neubert H, Lochmuller H, Morris C

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2017

Volume: 264

Issue: 3

Pages: 541-553

Print publication date: 01/03/2017

Online publication date: 10/01/2017

Acceptance date: 21/12/2016

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer

URL: https://doi.org/10.1007/s00415-016-8379-6

DOI: 10.1007/s00415-016-8379-6


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