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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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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DOI: https://doi.org/10.1038/nm.3592