Key result
The Arg719Trp mutation in the converter domain of the myosin head increased force generation and fiber stiffness under isometric conditions by 48-59% compared to control fibers.
Effect estimate: 48-59% increase
The Arg719Trp mutation in the myosin converter domain increases fiber stiffness, suggesting this domain is essential for elastic distortion of the cross-bridge in hypertrophic cardiomyopathy.
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Should not yet inform hypertrophic cardiomyopathy management; leaves open the myosin converter domain as a modulator of cross-bridge mechanics.
Köhler et al. (2002) studied Familial hypertrophic cardiomyopathy (n=5). Arg719Trp mutation in the beta-myosin heavy chain vs. Healthy control muscle fibers was evaluated on Force generation and fiber stiffness under isometric conditions (48-59% increase). The Arg719Trp mutation in the converter domain of the myosin head increased force generation and fiber stiffness under isometric conditions by 48-59% compared to control fibers.
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