Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation
- Witjas-Paalberends, E.R.
- Ferrara, C.
- Scellini, B.
- Piroddi, N.
- Montag, J.
- Tesi, C.
- Stienen, G.J.M.
- Michels, M.
- Ho, C.Y.
- Kraft, T.
- Poggesi, C.
- van der Velden, J.
DOIAbstract
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 (HC
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