Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

Masayuki Yazawa, Brian Hsueh, Xiaolin Jia, Anca M. Pasca, Jonathan A. Bernstein, Joachim Hallmayer and Ricardo E. Dolmetsch ()
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Masayuki Yazawa: Stanford University School of Medicine
Brian Hsueh: Stanford University School of Medicine
Xiaolin Jia: Stanford University School of Medicine
Anca M. Pasca: Stanford University School of Medicine
Jonathan A. Bernstein: Stanford University School of Medicine
Joachim Hallmayer: Stanford University School of Medicine
Ricardo E. Dolmetsch: Stanford University School of Medicine

Nature, 2011, vol. 471, issue 7337, 230-234

Abstract: New model for arrhythmias It is difficult to model cardiac arrhythmias in mice and other genetically tractable animals because the mechanisms of cardiomyocyte contraction in these animals are unlike those in humans. A new model for studying these conditions is reported, in the form of cardiomyocytes produced from induced pluripotent stem cells derived by reprogramming fibroblasts from two patients with Timothy syndrome, a disorder characterized by autism, immune deficiency and cardiac arrhythmias. The abnormal electrical and calcium-signalling properties of these patients' cells were restored by a drug, roscovitine, known to increase voltage-dependent inactivation of CaV1.2, a calcium channel that is defective in patients with Timothy syndrome.

Date: 2011
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DOI: 10.1038/nature09855

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