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Molecular basis of force-pCa relation in <i>MYL2</i> cardiomyopathy mice: Role of the super-relaxed state of myosin

Chen‐Ching Yuan, Katarzyna Kaźmierczak, Jingsheng Liang, Weikang Ma, Thomas C. Irving, Danuta Szczesna‐Cordary

2022Proceedings of the National Academy of Sciences38 citationsDOIOpen Access PDF

Abstract

activation. The HCM-D166V model also disrupted the SRX state and promoted an SRX-to-DRX (super-relaxed to disordered relaxed) transition that correlated with an HCM-linked phenotype of hypercontractility. While this dysregulation of SRX ↔ DRX equilibrium was consistent with repositioning of myosin motors closer to the thin filaments and with increased force-pCa dependence for HCM-D166V, the DCM-D94A model favored the energy-conserving SRX state, but the structure/function-pCa data were similar to WT. Our results suggest that the mutation-induced redistribution of myosin energetic states is one of the key mechanisms contributing to the development of complex clinical phenotypes associated with human HCM-D166V and DCM-D94A mutations.

Topics & Concepts

SarcomereIsometric exerciseMyosinHypertrophic cardiomyopathyMyosin headChemistryBiophysicsInternal medicineNuclear magnetic resonanceBiologyMyocytePhysicsMyosin light-chain kinaseMedicineBiochemistryCardiomyopathy and Myosin StudiesMuscle Physiology and DisordersCardiovascular Effects of Exercise
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