Departments of Biomedical Engineering and Cellular and Molecular Physiology, Yale University, New Haven, USA.
Department of Biomedical Engineering, Kings' College London, London, United Kingdom.
J Clin Invest. 2020 Feb 3;130(2):593-594. doi: 10.1172/JCI132954.
KBTBD13 is a protein expressed in striated muscle whose precise function is unknown. Work by de Winter et al. in this issue of the JCI provides evidence that KBTBD13 localizes to the sarcomere and can directly bind actin. A mutation in KBTBD13 that is associated with nemaline myopathy alters the protein's effects on actin, apparently increasing thin-filament stiffness and ultimately depressing contractile force and relaxation rate. We discuss here the implications of this new sarcomeric protein, some alternate explanations for the effects of KBTBD13R408C, and the advantages of using computational models to interpret functional data from muscle.
KBTBD13 是一种在横纹肌中表达的蛋白质,其确切功能尚不清楚。de Winter 等人在本期 JCI 中的工作提供了证据,表明 KBTBD13 定位于肌节,并可以直接结合肌动蛋白。与杆状体肌病相关的 KBTBD13 突变改变了该蛋白对肌动蛋白的作用,显然增加了细肌丝的刚度,最终降低了收缩力和松弛率。在这里,我们讨论了这种新的肌节蛋白的意义、KBTBD13R408C 作用的其他解释以及使用计算模型来解释来自肌肉的功能数据的优势。