Monday, 6 May 2013

Stem cells can be used to investigate Dravet syndrome and other rare diseases

Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy, is a rare and catastrophic form of intractable epilepsy that affects about 1 in every 30,000 infants. Unfortunately, research on DS is severely hampered by its extreme rareness. However, new findings by a team of researchers at the Fukuoka University, Japan not only shed new light into the condition, but may also help to increase our current understanding of other rare genetic disorders.

Most DS patients (70-80%) carry a mutation in their SCN1A gene that disrupts the alpha-subunit of the voltage-gated sodium channel. At present, much of our knowledge on the condition is based on animal models, usually mice that have been genetically altered so that their sodium channel is either mutated or deleted. Unluckily, findings from mouse models aren't very useful, due to the vast anatomical differences between the brains of humans and mice.

In this study, the researchers first created induced pluripotent stem cells (iPSCs) from the skin cells of a DS patient carrying the SCN1A mutation. Then, they used these cells to generate neurons in the lab which in turn allowed them to investigate DS on a better model with actual human cells, the first one ever created from iPSCs.

"From research with mice we believed that SCN1A mutations affect GABAergic neurons in the forebrain from signalling properly. From the human neurons we also found that GABAergic neurons were affected by DS, especially during intense stimulation. These patient-derived cells provide an unparallelled insight into the mechanism behind DS and a unique platform for drug development." said professor Shinichi Hirose, one of the studies chief authors.

The researchers mention that patient-derived iPSCs may become a new tool not only for DS but for many other rare genetic disorders that affect the central nervous system.

"Our data indicate that patient-derived iPSCs may serve as a new and powerful research platform for genetic disorders, including the epilepsies." extract from the study.

Higurashi, N., Uchida, T., Christoph, L., Misumi, Y., Okada, Y., Akamatsu, W., Imaizumi, Y., Zhang, B., Nabeshima, K., Mori, M., Katsurabayashi, S., Shirasaka, Y., Okano, H., & Hirose, S. (2013). A human Dravet syndrome model from patient induced pluripotent stem cells Molecular Brain, 6 (1) DOI: 10.1186/1756-6606-6-19

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