Reduced serum myostatin concentrations associated with genetic muscle disease progression
Reduced serum myostatin concentrations associated with genetic muscle disease progression
复制标题
DOI：
10.1007/s00415-016-8379-6
复制
发表时间：
2017-03-01
影响因子：
6
通讯作者：
Morris, Carl
中科院分区：
文献类型：
--
作者：
Burch, Peter M.;Pogoryelova, Oksana;Morris, Carl
肌生长抑制素是一种高度保守的蛋白质，主要由骨骼肌分泌，可有效抑制肌肉生长。这种调节骨骼肌质量的能力引发了人们对开发抗肌肉生长抑制素疗法的强烈兴趣，这些疗法用于广泛的肌肉疾病，包括肌肉减少症、恶病质和遗传性神经肌肉疾病。虽然许多研究已经检查了健康和肌肉减少人群中的循环肌生长抑制素浓度，但从遗传性肌肉疾病患者中获得的数据很少。在这里，我们已经测量了肌肉生长抑制素的浓度在血清中从7个遗传性神经肌肉疾病患者群体使用免疫亲和LC-MS/MS。肌肉生长抑制素的平均血清浓度在所有7个肌肉疾病患者组显着低于健康对照组中测量。此外，循环肌肉生长抑制素浓度与五个肌肉疾病患者群体的疾病进展的临床测量相关。这些发现极大地扩展了对肌生长抑制素在神经肌肉疾病中的理解，并表明其作为疾病进展的生物标志物的潜在效用。
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.