- According to a report in Nature, resarchers have successfully turned unhealthy patients' cells into healthy, mutation-free stem cells.
- Their research is focused on finding cures for mitochondrial diseases, for which there is currently no cure.
- Mitochondrial diseases are caused by any of about 200 different genetic mutations in mitochondria. They cause various disorders, ranging from diabetes to developmental delays, vision problems and other pathologies. Although these diseases can be prevented, the goal now is to find a cure.
Juan Carlos Izpisua Belmonte, a professor in Salk's Gene Expression Laboratory, worked with his team to derive stem cells with healthy mitochondria from the skin cells of patients with mitochondrial diseases, including mitochondrial encephalomyopathy or Leigh Syndrome---disorders which affect the brain and muscles.
They started by using current standard protocols to derive pluripotent cells from skin cells in order to create basic stem cells. Although it is possible to create stem cells from these patients and pick out the cells with healthy mitochondria, it is an obvious issue if a patient has no cells with healthy mitochondria. The researchers overcame this challenge by moving the nucleus of the patients' skin cells into a donor egg with healthy mitochondria. They then used the new egg cell to generate pluripotent stem cells, after which the healthy mitochondrial cells took over.
The implication of this breakthrough is that researchers should now be able to generate heart, brain, muscle or eye cells from mutation-free stem cells. The next step is to figure out how to make these cells fully mature and functional. That is a challenge, but the Salk researchers have accomplished a major breakthrough nonetheless.