R403Q and L908V mutant β-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level

@article{Palmiter2000R403QAL,
  title={R403Q and L908V mutant β-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level},
  author={Kimberly A. Palmiter and Matthew J. Tyska and Joe R. Haeberle and Norman R. Alpert and Lameh Fananapazir and David M. Warshaw},
  journal={Journal of Muscle Research & Cell Motility},
  year={2000},
  volume={21},
  pages={609-620}
}
Familial hypertrophic cardiomyopathy (FHC) is a disease of the sarcomere. In the β-myosin heavy chain gene, which codes for the mechanical enzyme myosin, greater than 40 point mutations have been found that are causal for this disease. We have studied the effect of two mutations, the R403Q and L908V, on myosin molecular mechanics. In the in vitro motility assay, the mutant myosins produced a 30% greater velocity of actin filament movement (νactin). At the single molecule level, νactin ∼d/t on… CONTINUE READING