An experiment successfully performed by researchers at the University of Wisconsin-Madison and the University of Missouri in Colombia, described in Nature magazine shows that cells removed from a patient’s skin and transformed into cells similar to embryonic stem cells have become a laboratory model for diseases and can be observed in real time and studied to find new cures. The researchers recreated spinal muscular atrophy (SMA) pluripotent stem cells removed from the skin of a child affected by the neurodegenerative genetic disease. In the laboratory, the cells behaved exactly as they do in a human being, giving the researchers an opportunity to observe the progression of the disease. This is an entirely new opportunity, made possible by a discovery by a Japanese research group, which less than a year ago was able to reprogram adult embryonic-like stem cells.
Clive Svendsen, one of the authors of the study said, “Before we could only work on these diseases when we were analyzing tissue removed post-mortem from patients. Basically, it was like when the police arrived at the scene of the crime or an accident that had already happened. Now with reprogrammed cells, we can replicate diseases in the laboratory and observe the first steps of the entire process.”
The research team also removed cells from the child’s healthy mother. The cells were successfully grown, and thanks to a new technique, were transformed into motor neurons, which control muscles and deteriorate in people with SMA. Initially, the two samples did not display differences, but after a month only the motor neuron cells from sick child died.
“Exactly like in organisms with SMA,” underlined Svendsen. The next step will be to understand what kills the motor neurons and why only these cells are targeted by the disease. Then it will be possible to develop therapies for a disease that right now, has no cure. The same mechanism will also be applied to other genetic diseases like Huntington’s.