Key result
Mutant beta-myosin from patients with hypertrophic cardiomyopathy translocated actin filaments slower (0.09 and 0.17 µm/s for 403Arg->Gln and 908Leu->Val mutations) than normal controls (0.49 µm/s).
Population
Skeletal muscle biopsies from patients with hypertrophic cardiomyopathy with identified missense mutations…
Comparison
In vitro motility assay of mutant beta-myosin… vs Normal beta-myosin from controls.
Design
Preclinical
Authors
Loading...
Indicates contractile impairment in HCM; leaves open in vivo relevance and clinical translation.
Mutations in the beta-MHC gene associated with hypertrophic cardiomyopathy result in abnormal actomyosin interactions and decreased myosin function in vitro.
Cuda et al. (1993) studied Hypertrophic cardiomyopathy (n=14). Mutant beta-myosin (403Arg->Gln or 908Leu->Val) vs. Normal beta-myosin was evaluated on Actin filament sliding velocity (µm/s). Mutant beta-myosin from patients with hypertrophic cardiomyopathy translocated actin filaments slower (0.09 and 0.17 µm/s for 403Arg->Gln and 908Leu->Val mutations) than normal controls (0.49 µm/s).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: