Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies?

Kalra, Spandan, Montanaro, Federica and Denning, Chris (2016) Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? Journal of Neuromuscular Diseases, 3 (3). pp. 309-332. ISSN 2214-3602

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Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles. Cardiac disease is present in several MDs where it is an important contributor to morbidity and mortality. Careful monitoring of cardiac issues is necessary but current management of cardiac involvement does not effectively protect from disease progression and cardiac failure. There is a critical need to gain new knowledge on the diverse molecular underpinnings of cardiac disease in MDs in order to guide cardiac treatment development and assist in reaching a clearer consensus on cardiac disease management in the clinic. Animal models are available for the majority of MDs and have been invaluable tools in probing disease mechanisms and in pre-clinical screens. However, there are recognized genetic, physiological, and structural differences between human and animal hearts that impact disease progression, manifestation, and response to pharmacological interventions. Therefore, there is a need to develop parallel human systems to model cardiac disease in MDs. This review discusses the current status of cardiomyocytes (CMs) derived from human induced pluripotent stem cells (hiPSC) to model cardiac disease, with a focus on Duchenne muscular dystrophy (DMD) and myotonic dystrophy (DM1). We seek to provide a balanced view of opportunities and limitations offered by this system in elucidating disease mechanisms pertinent to human cardiac physiology and as a platform for treatment development or refinement.

Item Type: Article
Additional Information: Estimated specific publication date. Website gives 2016 only as publication date for this article.
Keywords: Human embryonic stem cells, human induced pluripotent stem cells, Cas9/CRISPR genome editing, cardiomyocytes, Duchenne muscular dystrophy (DMD), myotonic dystrophy (DM1), disease modelling, exon skipping, gene therapy
Schools/Departments: University of Nottingham, UK > Faculty of Medicine and Health Sciences > School of Life Sciences > Stem Cell Group
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Depositing User: Eprints, Support
Date Deposited: 20 Oct 2016 10:51
Last Modified: 04 May 2020 17:58

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