Goluguri Rama Reddy, Guhathakurta Piyali, Nandwani Neha, Dawood Aminah, Yakota Seiji, Roopnarine Osha, Thomas David D, Spudich James A, Ruppel Kathleen M
Department of Biochemistry, Stanford University School of Medicine, Stanford, CA 94305, United States.
Stanford Cardiovascular Institute, Stanford, CA 94305, United States.
bioRxiv. 2024 Dec 10:2024.12.05.626936. doi: 10.1101/2024.12.05.626936.
In cardiac muscle, many myosin molecules are in a resting or "OFF" state with their catalytic heads in a folded structure known as the interacting heads motif (IHM). Many mutations in the human β-cardiac myosin gene that cause hypertrophic cardiomyopathy (HCM) are thought to destabilize (decrease the population of) the IHM state. The effects of pathogenic mutations on the IHM structural state are often studied using indirect assays, including a single-ATP turnover assay that detects the super-relaxed (SRX) biochemical state of myosin functionally. Here we develop and use a fluorescence resonance energy transfer (FRET) based sensor for direct quantification of the IHM state in solution. The FRET sensor was able to quantify destabilization of the IHM state in solution, induced by (a) increasing salt concentration, (b) altering proximal S2 tail length, or (c) introducing the HCM mutation P710R, as well as stabilization of the IHM state by introducing a dilated cardiomyopathy-causing mutation (E525K). Our FRET sensor conclusively showed that these perturbations indeed alter the structural IHM state. These results establish that the structural IHM state is one of the structural correlates of the biochemical SRX state in solution.
在心肌中,许多肌球蛋白分子处于静止或“关闭”状态,其催化头部呈折叠结构,称为相互作用头部基序(IHM)。人类β-心肌肌球蛋白基因中许多导致肥厚型心肌病(HCM)的突变被认为会破坏(减少)IHM状态的稳定性。致病突变对IHM结构状态的影响通常使用间接检测方法进行研究,包括一种单ATP周转检测方法,该方法从功能上检测肌球蛋白的超松弛(SRX)生化状态。在这里,我们开发并使用了一种基于荧光共振能量转移(FRET)的传感器,用于直接定量溶液中的IHM状态。FRET传感器能够定量溶液中IHM状态的不稳定情况,这种不稳定是由以下因素引起的:(a)增加盐浓度,(b)改变近端S2尾部长度,或(c)引入HCM突变P710R,以及通过引入导致扩张型心肌病的突变(E525K)来稳定IHM状态。我们的FRET传感器确凿地表明,这些扰动确实改变了IHM的结构状态。这些结果表明,结构IHM状态是溶液中生化SRX状态的结构相关因素之一。