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REVIEW article

Front. Cell Dev. Biol.
Sec. Stem Cell Research
Volume 12 - 2024 | doi: 10.3389/fcell.2024.1498669
This article is part of the Research Topic Studying Rare Diseases Using induced Pluripotent Stem Cell (iPSC)-based Model Systems View all articles

Human stem cell models for Marfan syndrome: A brief overview of the rising star in disease modelling Authors

Provisionally accepted
Jeffrey Aalders Jeffrey Aalders 1Laura Muiño Mosquera Laura Muiño Mosquera 2Jolanda van Hengel Jolanda van Hengel 1*
  • 1 Ghent University, Ghent, Belgium
  • 2 Ghent University Hospital, Ghent, East Flanders, Belgium

The final, formatted version of the article will be published soon.

    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.

    Keywords: Human pluripotent stem cells, Marfan Syndrome, disease modelling, in vitro, aortopathy, cardiomyopathy

    Received: 19 Sep 2024; Accepted: 04 Dec 2024.

    Copyright: © 2024 Aalders, Muiño Mosquera and van Hengel. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Jolanda van Hengel, Ghent University, Ghent, Belgium

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.