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Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome

Aalders, Jeffrey ; Léger, Laurens ; Van der Meeren, Louis ; Van den Vreken, Natasja ; Skirtach, Andre G ; Sinha, Sanjay ; De Backer, Julie ; van Hengel, Jolanda

Scientific reports, 2020-10, Vol.10 (1), p.16756-16756, Article 16756 [Periódico revisado por pares]

England: Nature Publishing Group UK

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Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome
Autor: Aalders, Jeffrey ; Léger, Laurens ; Van der Meeren, Louis ; Van den Vreken, Natasja ; Skirtach, Andre G ; Sinha, Sanjay ; De Backer, Julie ; van Hengel, Jolanda
Assuntos: Adult ; Cell Differentiation - physiology ; Fibrillins - genetics ; Fibrillins - metabolism ; Humans ; Induced Pluripotent Stem Cells - metabolism ; Induced Pluripotent Stem Cells - pathology ; Marfan Syndrome - genetics ; Marfan Syndrome - metabolism ; Marfan Syndrome - pathology ; Mutation ; Myocytes, Cardiac - metabolism ; Myocytes, Cardiac - pathology
É parte de: Scientific reports, 2020-10, Vol.10 (1), p.16756-16756, Article 16756
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: 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.
Editor: England: Nature Publishing Group UK
Idioma: Inglês

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Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome

Aalders, Jeffrey ; Léger, Laurens ; Van der Meeren, Louis ; Van den Vreken, Natasja ; Skirtach, Andre G ; Sinha, Sanjay ; De Backer, Julie ; van Hengel, Jolanda

England: Nature Publishing Group UK

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