Familial hypertrophic cardiomyopathy mutations in troponin I (K183D, G203S, K206Q) enhance filament sliding.

@article{Khler2003FamilialHC,
  title={Familial hypertrophic cardiomyopathy mutations in troponin I (K183D, G203S, K206Q) enhance filament sliding.},
  author={Jan K{\"o}hler and Yin Chen and Bernhard Brenner and Albert M. Gordon and Theresia Kraft and Donald A. Martyn and Michael Regnier and Anthony J Rivera and Chien-Kao Wang and P. Bryant Chase},
  journal={Physiological genomics},
  year={2003},
  volume={14 2},
  pages={117-28}
}
A major cause of familial hypertrophic cardiomyopathy (FHC) is dominant mutations in cardiac sarcomeric genes. Linkage studies identified FHC-related mutations in the COOH terminus of cardiac troponin I (cTnI), a region with unknown function in Ca(2+) regulation of the heart. Using in vitro assays with recombinant rat troponin subunits, we tested the hypothesis that mutations K183Delta, G203S, and K206Q in cTnI affect Ca(2+) regulation. All three mutants enhanced Ca(2+) sensitivity and maximum… CONTINUE READING

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