Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations
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- 作者：Sabine J. van Dijk (1)
Nicky M. Boontje (1)
Martijn W. Heymans (2)
Folkert J. ten Cate (3)
Michelle Michels (3)
Cris dos Remedios (4)
Dennis Dooijes (5)
Marjon A. van Slegtenhorst (6)
Jolanda van der Velden (1) (7)
Ger J. M. Stienen (1) (8) - 关键词：Cardiac muscle ; Cross ; bridge ; Muscle contraction ; MyBP ; C mutation
- 刊名：Pfl篓鹿gers Archiv - European Journal of Physiology
- 出版年：2014
- 出版时间：August 2014
- 年：2014
- 卷：466
- 期：8
- 页码：1619-1633
- 全文大小：1,332 KB
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Nicky M. Boontje (1)
Martijn W. Heymans (2)
Folkert J. ten Cate (3)
Michelle Michels (3)
Cris dos Remedios (4)
Dennis Dooijes (5)
Marjon A. van Slegtenhorst (6)
Jolanda van der Velden (1) (7)
Ger J. M. Stienen (1) (8)
1. Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands
2. Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, The Netherlands
3. Thorax Center, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
4. Muscle Research Unit, Institute for Biomedical Research, The University of Sydney, Sydney, Australia
5. Clinical Genetics, Medical Center Utrecht, Utrecht, The Netherlands
6. Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
7. ICIN—Netherlands Heart Institute, Utrecht, The Netherlands
8. Department of Physics and Astronomy, VU University, Amsterdam, The Netherlands - ISSN：1432-2013
文摘
Mutations in the MYBPC3 gene, encoding cardiac myosin binding protein C (cMyBP-C) are frequent causes of hypertrophic cardiomyopathy (HCM). Previously, we have presented evidence for reduced cMyBP-C expression (haploinsufficiency), in patients with a truncation mutation in MYBPC3. In mice, lacking cMyBP-C cross-bridge kinetics was accelerated. In this study, we investigated whether cross-bridge kinetics was altered in myectomy samples from HCM patients harboring heterozygous MYBPC3 mutations (MYBPC3mut). Isometric force and the rate of force redevelopment (k tr) at different activating Ca2+ concentrations were measured in mechanically isolated Triton-permeabilized cardiomyocytes from MYBPC3mut (n--8) and donor (n--) tissue. Furthermore, the stretch activation response of cardiomyocytes was measured in tissue from eight MYBPC3mut patients and five donors to assess the rate of initial force relaxation (k 1) and the rate and magnitude of the transient increase in force (k 2 and P 3, respectively) after a rapid stretch. Maximal force development of the cardiomyocytes was reduced in MYBPC3mut (24.5?±-.3?kN/m2) compared to donor (34.9?±-.6?kN/m2). The rates of force redevelopment in MYBPC3mut and donor over a range of Ca2+ concentrations were similar (k tr at maximal activation: 0.63?±-.03 and 0.75?±-.09?s?, respectively). Moreover, the stretch activation parameters did not differ significantly between MYBPC3mut and donor (k 1: 8.5±0.5 and 8.8?±-.4?s?; k 2: 0.77?±-.06 and 0.74?±-.09?s?; P 3: 0.08?±-.01 and 0.09?±-.01, respectively). Incubation with protein kinase A accelerated k 1 in MYBPC3mut and donor to a similar extent. Our experiments indicate that, at the cMyBP-C expression levels in this patient group (63?±-?% relative to donors), cross-bridge kinetics are preserved and that the depressed maximal force development is not explained by perturbation of cross-bridge kinetics.