Saturday, 12 January 2013

Stem cells help boy with Long QT syndrome

One of the most important applications of induced pluripotent stem cells (iPSCs) is using them as a model for developing and testing new drugs and therapies. Yesterday, scientists at Columbia University Medical Centre announced that they used iPSCs to help a 4-year old boy with long QT syndrome, a rare inborn heart condition. With the help of iPSCs they both identified the underlying cause and created a personalised therapy for him.

Long QT syndrome (LQTS) is a rare inborn heart condition in which patients have an increased risk of arrhythmia episodes that in return may cause palpitation, seizures, fainting and even sudden death.The LQTS condition arises from mutation of one of several genes:
  • KCNQ1 
  • KCNH2
  • SCN5A 

The researchers first created induced pluripotent stem cells from somatic cells of the boy and his parents. They then differentiated them into myocardiocytes (heart cells) and used voltage clamp analysis to identify that his condition was caused by a mutation in the SCN5A gene, which encodes a potassium channel. The iPSCs were further cultured and tested to produce an individualised drug therapy for the boy.

Image of a cardiomyocyte cell
A cardiomyocyte

The researchers believe that their findings are very important for developing personalised treatments for LQTS and other channelopathies, diseases caused by disturbed function of ion channel subunits.

Nick Von Bergen, Pediatric Cardiologist, explaining what Long QT syndrome is

Terrenoire, C., Wang, K., Chan Tung, K., Chung, W., Pass, R., Lu, J., Jean, J., Omari, A., Sampson, K., Kotton, D., Keller, G., & Kass, R. (2013). Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics The Journal of Cell Biology, 200 (1) DOI: 10.1083/JCB2001OIA3

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