Effects of hypertrophic and dilated cardiomyopathy mutations on power output by human β-cardiac myosin

James A. Spudich, Tural Aksel, Sadie R. Bartholomew, Suman Nag, Masataka Kawana, Elizabeth Choe Yu, Saswata S. Sarkar, Jongmin Sung, Ruth F. Sommese, Shirley Sutton, Carol Cho, Arjun S. Adhikari, Rebecca Taylor, Chao Liu, Darshan Trivedi, Kathleen M. Ruppel

Research output: Contribution to journalReview articlepeer-review

38 Scopus citations


Hypertrophic cardiomyopathy is the most frequently occurring inherited cardiovascular disease, with a prevalence of more than one in 500 individuals worldwide. Genetically acquired dilated cardiomyopathy is a related disease that is less prevalent. Both are caused by mutations in the genes encoding the fundamental forcegenerating protein machinery of the cardiac muscle sarcomere, including human β-cardiac myosin, the motor protein that powers ventricular contraction. Despite numerous studies, most performed with non-human or non-cardiac myosin, there is no clear consensus about the mechanism of action of these mutations on the function of human β-cardiac myosin. We are using a recombinantly expressed human β-cardiac myosin motor domain along with conventional and new methodologies to characterize the forces and velocities of the mutant myosins compared with wild type. Our studies are extending beyond myosin interactions with pure actin filaments to include the interaction of myosin with regulated actin filaments containing tropomyosin and troponin, the roles of regulatory light chain phosphorylation on the functions of the system, and the possible roles of myosin binding protein-C and titin, important regulatory components of both cardiac and skeletal muscles.

Original languageEnglish (US)
Pages (from-to)161-167
Number of pages7
JournalJournal of Experimental Biology
Issue number2
StatePublished - Jan 1 2016


  • Cardiac myosin
  • Cardiomyopathy mutations
  • Force-velocity curves

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