Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling
The introduction of pluripotent stem cells into the field of disease modelling resulted in numerous opportunities to study and uncover disease mechanisms in a petri dish. This promising avenue has also been applied to model Marfan syndrome, a disease affecting multiple organ systems, including the s...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Cell and Developmental Biology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2024.1498669/full |
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| author | Jeffrey Aalders Laura Muiño Mosquera Laura Muiño Mosquera Jolanda van Hengel |
| author_facet | Jeffrey Aalders Laura Muiño Mosquera Laura Muiño Mosquera Jolanda van Hengel |
| author_sort | Jeffrey Aalders |
| collection | DOAJ |
| description | The introduction of pluripotent stem cells into the field of disease modelling resulted in numerous opportunities to study and uncover disease mechanisms in a petri dish. This promising avenue has also been applied to model Marfan syndrome, a disease affecting multiple organ systems, including the skeletal and cardiovascular system. Marfan syndrome is caused by pathogenic variants in FBN1, the gene encoding for the extracellular matrix protein fibrillin-1 which ensembles into microfibrils. There is a poor genotype-phenotype correlation displayed by the diverse clinical manifestations of this disease in patients. Up to now, 52 different human pluripotent stem cells lines have been established and reported for Marfan syndrome. These stem cells have been employed to model aortopathy, skeletal abnormalities and cardiomyopathy in vitro. These models were able to recapitulate key features of the disease that are also observed in patients. The use of pluripotent stem cells will help to uncover disease mechanisms and to identify new therapeutic strategies in Marfan syndrome. |
| format | Article |
| id | doaj-art-27668b73c70c4871bb47998c8fa30c12 |
| institution | OA Journals |
| issn | 2296-634X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj-art-27668b73c70c4871bb47998c8fa30c122025-08-20T01:47:18ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2025-01-011210.3389/fcell.2024.14986691498669Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modellingJeffrey Aalders0Laura Muiño Mosquera1Laura Muiño Mosquera2Jolanda van Hengel3Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Ghent, BelgiumCenter for Medical Genetics, Ghent University Hospital, Belgium and Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, BelgiumDepartment of Pediatrics, Division of Pediatric Cardiology, Ghent University Hospital, Ghent, BelgiumMedical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Ghent, BelgiumThe introduction of pluripotent stem cells into the field of disease modelling resulted in numerous opportunities to study and uncover disease mechanisms in a petri dish. This promising avenue has also been applied to model Marfan syndrome, a disease affecting multiple organ systems, including the skeletal and cardiovascular system. Marfan syndrome is caused by pathogenic variants in FBN1, the gene encoding for the extracellular matrix protein fibrillin-1 which ensembles into microfibrils. There is a poor genotype-phenotype correlation displayed by the diverse clinical manifestations of this disease in patients. Up to now, 52 different human pluripotent stem cells lines have been established and reported for Marfan syndrome. These stem cells have been employed to model aortopathy, skeletal abnormalities and cardiomyopathy in vitro. These models were able to recapitulate key features of the disease that are also observed in patients. The use of pluripotent stem cells will help to uncover disease mechanisms and to identify new therapeutic strategies in Marfan syndrome.https://www.frontiersin.org/articles/10.3389/fcell.2024.1498669/fullhuman pluripotent stem cellsMarfan syndromedisease modellingin vitroaortopathycardiomyopathy |
| spellingShingle | Jeffrey Aalders Laura Muiño Mosquera Laura Muiño Mosquera Jolanda van Hengel Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling Frontiers in Cell and Developmental Biology human pluripotent stem cells Marfan syndrome disease modelling in vitro aortopathy cardiomyopathy |
| title | Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling |
| title_full | Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling |
| title_fullStr | Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling |
| title_full_unstemmed | Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling |
| title_short | Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling |
| title_sort | human stem cell models for marfan syndrome a brief overview of the rising star in disease modelling |
| topic | human pluripotent stem cells Marfan syndrome disease modelling in vitro aortopathy cardiomyopathy |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2024.1498669/full |
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