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

Kalra, S; Montanaro, F; Denning, C; (2016) Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? Journal of Neuromuscular Diseases , 3 (3) pp. 309-332. 10.3233/JND-150133. Green open access

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Abstract

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.

Type: Article
Title: Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies?
Open access status: An open access version is available from UCL Discovery
DOI: 10.3233/JND-150133
Publisher version: http://dx.doi.org/10.3233/JND-150133
Language: English
Additional information: Copyright © 2016 IOS Press and the authors. All rights reserved. This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License (CC BY-NC 4.0) (https://creativecommons.org/licenses/by-nc/4.0/)
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
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1503898
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