Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation

E.R. Witjas-Paalberends, C. Ferrara, B. Scellini, N. Piroddi, J. Montag, C. Tesi, G.J.M. Stienen, M. Michels, C.Y. Ho, T. Kraft, C. Poggesi, J. van der Velden

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The first mutation associated with hypertrophic cardiomyopathy (HCM) is the R403Q mutation in the gene encoding β-myosin heavy chain (β-MyHC). R403Q locates in the globular head of myosin (S1), responsible for interaction with actin, and thus motor function of myosin. Increased cross-bridge relaxation kinetics caused by the R403Q mutation might underlie increased energetic cost of tension generation; however, direct evidence is absent. Here we studied to what extent cross-bridge kinetics and energetics are related in single cardiac myofibrils and multicellular cardiac muscle strips of three HCM patients with the R403Q mutation and nine sarcomere mutation-negative HCM patients (HCM
Original languageEnglish
Pages (from-to)3257-3272
JournalJournal of Physiology - London
Issue number15
Publication statusPublished - 2014

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