ArticleScientific reports2020
Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome.JACC. Basic to translational science · 2026Article
- People With Marfan Syndrome Utilize an Ankle Dominant Strategy to Perform the Sit-to-Stand Task.Journal of applied biomechanics · 2026Article
- Chromatin accessibility landscapes define stromal cell identities across tissues.Communications biology · 2026Article
- Inhibition of HuR/ELAVL-1 attenuates fibrotic progression in Mdx mice with dilated cardiomyopathy.Cellular and molecular life sciences : CMLS · 2025Article
- Assessment of hip joint mechanics during walking in people with Marfan syndrome.Gait & posture · 2025Article
- Marfan syndrome cardiomyocytes show excess of titin isoform N2BA and extended sarcomeric M-band.The Journal of general physiology · 2025Article
- Gene expression modulation in human aortic smooth muscle cells under induced physiological mechanical stretch.Scientific reports · 2024Article
- Human stem cell models for Marfan syndrome: aFrontiers in cell and developmental biology · 2024Review
- Deciphering Congenital Heart Disease Using Human Induced Pluripotent Stem Cells.Advances in experimental medicine and biology · 2024Article
- Systematic characterization of regulatory variants of blood pressure genes.Cell genomics · 2023Article
- Aorto-aortic bypass in an infant with middle aortic syndrome and Marfan syndrome: a 15-year follow-up.Interdisciplinary cardiovascular and thoracic surgery · 2023Article
- Microelectrode Array Recording of Sinoatrial Node Firing Rate to Identify Intrinsic Cardiac Pacemaking Defects in Mice.Journal of visualized experiments : JoVE · 2021Article
- An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome.Journal of experimental pharmacology · 2021Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Marfan syndrome (MFS) is a systemic disorder of connective tissue caused by pathogenic variants in the fibrillin-1 (FBN1) gene. Myocardial dysfunction has been demonstrated in MFS patients and mouse models, but little is known about the intrinsic effect on the cardiomyocytes (CMs). In this study, both induced pluripotent stem cells derived from a MFS-patient and the line with the corrected FBN1 mutation were differentiated to CMs. Several functional analyses are performed on this model to study MFS related cardiomyopathy. Atomic force microscopy revealed that MFS CMs are stiffer compared to corrected CMs. The contraction amplitude of MFS CMs is decreased compared to corrected CMs. Under normal culture conditions, MFS CMs show a lower beat-to-beat variability compared to corrected CMs using multi electrode array. Isoproterenol-induced stress or cyclic strain demonstrates lack of support from the matrix in MFS CMs. This study reports the first cardiac cell culture model for MFS, revealing abnormalities in the behavior of MFS CMs that are related to matrix defects. Based on these results, we postulate that impaired support from the extracellular environment plays a key role in the improper functioning of CMs in MFS.
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Registered trials
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