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iPSCs used to define treatment for heart disorder

Date:
January 11, 2013
Source:
Rockefeller University Press
Summary:
Researchers used induced pluripotent stem cells (iPSCs) derived from a young patient with Long QT syndrome (LQTS), a congenital heart disorder, to determine a course of treatment that helped manage the patient’s life-threatening arrhythmias.

ECG results from a patient with LQTS (bottom), which have a prolonged QT interval, are shown relative to normal ECG results (top). Researchers used iPSCs derived from a young patient with LQTS to determine a course of treatment that helped manage the patient's life-threatening arrhythmias.
Credit: Adler, E. 2013. J. Gen. Physiol. doi:10.1085/jgp.201310958 (image adapted from ECG tracings supplied by Robert Pass).

Researchers used induced pluripotent stem cells (iPSCs) derived from a young patient with Long QT syndrome (LQTS), a congenital heart disorder, to determine a course of treatment that helped manage the patient's life-threatening arrhythmias. The results, which appear in The Journal of General Physiology, could lead to improved treatments for LQTS and other channelopathies, diseases caused by disturbed ion channel function.

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iPSCs -- adult cells that have been genetically reprogrammed to function like embryonic stem cells -- provide a valuable tool for studying diseases and developing customized drug therapies. Researchers from Columbia University Medical Center used iPSCs differentiated into cardiomyocytes (iPSCs-CMs) to study the physiological basis for arrhythmias in a four-year-old with LQTS. The disease, which can cause arrhythmias that lead to seizures and sudden death, is caused by a mutation in any of various genes encoding cardiac ion channels or their associated proteins.

In the case at hand, the child had mutation in the SCN5A gene, which encodes a sodium channel, and a common polymorphism in the KCNH2 gene, which encodes a potassium channel.

Using voltage clamp analyses of iPSCs-CMs derived from the affected child and his parents, the researchers determined that his arrhythmias were caused by the SCN5A mutation. They performed further in vitro testing using the iPSCs-CMs to identify the most appropriate regimen for correcting the aberrant activity associated with the defective ion channel. The results show promise for using in vitro iPSC techniques in the development of individualized drug therapies for patients with LQTS and other channelopathies.


Story Source:

The above story is based on materials provided by Rockefeller University Press. Note: Materials may be edited for content and length.


Journal Reference:

  1. C. Terrenoire, K. Wang, K. W. Chan Tung, W. K. Chung, R. H. Pass, J. T. Lu, J.-C. Jean, A. Omari, K. J. Sampson, D. N. Kotton, G. Keller, R. S. Kass. Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics. The Journal of General Physiology, 2012; 141 (1): 61 DOI: 10.1085/jgp.201210899

Cite This Page:

Rockefeller University Press. "iPSCs used to define treatment for heart disorder." ScienceDaily. ScienceDaily, 11 January 2013. <www.sciencedaily.com/releases/2013/01/130111110859.htm>.
Rockefeller University Press. (2013, January 11). iPSCs used to define treatment for heart disorder. ScienceDaily. Retrieved January 30, 2015 from www.sciencedaily.com/releases/2013/01/130111110859.htm
Rockefeller University Press. "iPSCs used to define treatment for heart disorder." ScienceDaily. www.sciencedaily.com/releases/2013/01/130111110859.htm (accessed January 30, 2015).

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