J Clin Invest. 2024 May 1;134(9):e179958. doi: 10.1172/JCI179958.
The myosin inhibitor mavacamten has transformed the management of obstructive hypertrophic cardiomyopathy (HCM) by targeting myosin ATPase activity to mitigate cardiac hypercontractility. This therapeutic mechanism has proven effective for patients with HCM independent of having a primary gene mutation in myosin. In this issue of the JCI, Buvoli et al. report that muscle hypercontractility is a mechanism of pathogenesis underlying muscle dysfunction in Laing distal myopathy, a disorder characterized by mutations altering the rod domain of β myosin heavy chain. The authors performed detailed physiological, molecular, and biomechanical analyses and demonstrated that myosin ATPase inhibition can correct a large extent of muscle abnormalities. The findings offer a therapeutic avenue for Laing distal myopathy and potentially other myopathies. This Commentary underscores the importance of reevaluating myosin activity's role across myopathies in general for the potential development of targeted myosin inhibitors to treat skeletal muscle disorders.
肌球蛋白抑制剂 mavacamten 通过靶向肌球蛋白 ATP 酶活性来减轻心脏过度收缩,从而改变梗阻性肥厚型心肌病 (HCM) 的治疗管理。这种治疗机制已被证明对 HCM 患者有效,而与肌球蛋白中是否存在主要基因突变无关。在本期 JCI 中,Buvoli 等人报道说,肌肉过度收缩是 Laing 远端肌病肌肉功能障碍的发病机制之一,这种疾病的特征是突变改变β肌球蛋白重链的杆状结构域。作者进行了详细的生理、分子和生物力学分析,并证实肌球蛋白 ATP 酶抑制可以很大程度上纠正肌肉异常。这些发现为 Laing 远端肌病和可能的其他肌病提供了一种治疗途径。本评论强调了重新评估肌球蛋白活性在一般肌病中的作用的重要性,以开发针对肌球蛋白的抑制剂来治疗骨骼肌疾病。