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Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection

Nature Medicine volume 20, pages 585–586 (2014)Cite this article

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Barth syndrome is a rare X-linked genetic disorder caused by mutations in the tafazzin (TAZ) gene that result in dilated cardiomyopathy, skeletal myopathy and neutropenia. Tafazzin has a mitochondrial function, and a new study using cardiomyocytes derived from induced pluripotent stem cells (iPSCs) from humans with Barth syndrome identifies increased mitochondrial reactive oxygen species (ROS) production as a key intermediate causing cardiac contractile dysfunction (pages 616–623).

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Figure 1: Proposed pathophysiology of Barth syndrome cardiomyopathy revealed by iPSC model.

Kim Caesar/Nature Publishing Group

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Authors and Affiliations

  1. Kunil K. Raval and Timothy J. Kamp are at the Department of Medicine, Stem Cell and Regenerative Medicine Center, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, USA.,

    Kunil K Raval & Timothy J Kamp

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  1. Kunil K Raval
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  2. Timothy J Kamp
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Correspondence to Timothy J Kamp.

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Competing interests

T.J.K. is a cofounder and consultant for Cellular Dynamics International, Inc., which uses induced pluripotent stem cells for biotechnology and toxicology applications.

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Raval, K., Kamp, T. Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection. Nat Med 20, 585–586 (2014). https://doi.org/10.1038/nm.3592

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