Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function

van Dijk, Sabine J.; Paalberends, E. Rosalie; Najafi, Aref; Michels, Michelle; Sadayappan, Sakthivel; Carrier, Lucie; Boontje, Nicky M.; Kuster, Diederik W.D.; van Slegtenhorst, Marjon; Dooijes, Dennis; dos Remedios, Cris; ten Cate, Folkert J.; Stienen, Ger J.M.; van der Velden, Jolanda

doi:10.1161/circheartfailure.111.963702

Cited by 124Cardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmiasCardiovascular Function and Risk Factors

Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function

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van Dijk, Sabine J., Paalberends, E. Rosalie, Najafi, Aref, Michels, Michelle, Sadayappan, Sakthivel, Carrier, Lucie, Boontje, Nicky M., Kuster, Diederik W.D. +6 more·2012·Circulation: Heart Failure

DOI 10.1161/circheartfailure.111.963702

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Abstract

Background—: Hypertrophic cardiomyopathy (HCM), typically characterized by asymmetrical left ventricular hypertrophy, frequently is caused by mutations in sarcomeric proteins. We studied if changes in sarcomeric properties in HCM depend on the underlying protein mutation. Methods and Results—: Comparisons were made between cardiac samples from patients carrying a MYBPC3 mutation (MYBPC3 mut ; n=17), mutation negative HCM patients without an identified sarcomere mutation (HCM mn ; n=11), and nonfailing donors (n=12). All patients had normal systolic function, but impaired diastolic function. Protein expression of myosin binding protein C (cMyBP-C) was significantly lower in MYBPC3 mut by 33±5%, and similar in HCM mn compared with donor. cMyBP-C phosphorylation in MYBPC3 mut was similar to donor, whereas it was significantly lower in HCM mn . Troponin I phosphorylation was lower in both patient groups compared with donor. Force measurements in single permeabilized cardiomyocytes demonstrated comparable sarcomeric dysfunction in both patient groups characterized by lower maximal force generating capacity in MYBPC3 mut and HCM mn, compared with donor (26.4±2.9, 28.0±3.7, and 37.2±2.3 kN/m 2 , respectively), and higher myofilament Ca 2+ -sensitivity (EC 50 =2.5±0.2, 2.4±0.2, and 3.0±0.2 μmol/L, respectively). The sarcomere length-dependent increase in Ca 2+ -sensitivity was significantly smaller in both patient groups compared with donor (ΔEC 50 : 0.46±0.04, 0.37±0.05, and 0.75±0.07 μmol/L, respectively). Protein kinase A treatment restored myofilament Ca 2+ -sensitivity and length-dependent activation in both patient groups to donor values. Conclusions—: Changes in sarcomere function reflect the clinical HCM phenotype rather than the specific MYBPC3 mutation. Hypocontractile sarcomeres are a common deficit in human HCM with normal systolic left ventricular function and may contribute to HCM disease progression.

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Other studies have shown a much higher extent of human cTnI phosphorylation, with unphosphorylated group as low as ~2-10%.
“other studies which have shown a much higher extent of human cTnI phosphorylation (with un-phosphorylated group accounting for as low as ~2–10%)”
From Small and large animal models in cardiac contraction research: advantages and disadvantages (2014) · cites this paper as van Dijk, et al., 2011

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Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy
van Dijk, S. J., Dooijes, D., dos Remedios, C. G., Michels, M., Lamers, J. M. J., Winegrad, S., Schlossarek, S., Carrier, L., ten Cate, F. J., Stienen, G. J. M., et al. (2009) · Circulation · doi:10.1161/circulationaha.108.838672 · Cited by 328 · see citing works
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Hypertrophic and dilated cardiomyopathies, the relationship of genotype to phenotype
Jacques, A. M. (2012) · OpenGrey (Institut de l'Information Scientifique et Technique)

Authors: van Dijk, S. J., Paalberends, E. R., Najafi, A., Michels, M., Sadayappan, S., Carrier, L., Boontje, N. M., Kuster, D. W. D., van Slegtenhorst, M., Dooijes, D., dos Remedios, C., ten Cate, F. J., Stienen, G. J. M., & van der Velden, J.
Affiliations: From the Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands (S.J.D., E.R.P., A.N., N.M.B., D.W.D.K., G.J.M.S., J.V.); Department of Physics and Astronomy, VU University Amsterdam, De Boelelaan 1081, Amsterdam, The Netherlands (G.J.M.S.); Thorax Center (M.M., F.J.C.) and Clinical Genetics (M.S.), Erasmus Medical Center Rotterdam, The Netherlands; Department of Cell and Molecular Physiology, Loyola University Chicago, Chicago, IL ...
The University of Sydney (AU)
ORCID: Michels, Michelle
Sadayappan, Sakthivel
Carrier, Lucie
Kuster, Diederik W.D.
Dooijes, Dennis
Stienen, Ger J.M.
Venue: Circulation: Heart Failure
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2012-01
Volume: 5
Issue: 1
Pages: 36-46
ISSN: 1941-3289 (ISSN-L)
1941-3297
DOI: 10.1161/circheartfailure.111.963702
OpenAlex: W2102903858
Cited by: 124
References: 51
Citations by year: 2026: 5 · 2025: 4 · 2024: 1 · 2023: 7 · 2022: 10 · 2021: 4 · 2020: 4 · 2019: 9 · 2018: 14 · 2017: 8 · 2016: 11 · 2015: 9 · 2014: 20 · 2013: 15 · 2012: 3
FWCI: 8.34
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Circulation Heart Failure (publishedVersion)
PubMed (publishedVersion)
Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
Pure Amsterdam UMC (submittedVersion, other-oa)
Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Funders: Erasmus Medisch Centrum
Nederlandse Organisatie voor Wetenschappelijk Onderzoek
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Function and Risk Factors
Keywords: hypertrophic cardiomyopathy, MYBPC3 mutation, diastolic dysfunction, myosin binding protein C, troponin I phosphorylation, myofilament calcium sensitivity, length-dependent activation, protein kinase A, contractile dysfunction, sarcomere length
MeSH terms: Myosin Binding Protein C, Adult, Aged, Blood Pressure, Calcium, Cardiomyopathy, Hypertrophic, Carrier Proteins, Diastole, Female, Humans, Male, Middle Aged, Mutation, Myocardial Contraction, Phosphorylation, Sarcomeres, Systole, Ventricular Function, Left, Cyclic AMP-Dependent Protein Kinases, Disease Progression

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Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function

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