Reduced serum myostatin concentrations associated with genetic muscle disease progression
Author(s): Burch PM, Pogoryelova O2, Palandra J3, Goldstein R4, Bennett D5, Fitz L5, Guglieri M2, Bettolo CM2, Straub V2, Evangelista T2, Neubert H3, Lochmüller H2, Morris C5,6.
Published: January 10, 2017
Journal: Journal of Neurology
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.