Stem Cell Transplants Actually Reversed Friedreich’s Ataxia Damage in Mice

If you or someone you love have Friedreich’s Ataxia, you know how badly we need an adequate treatment.

Friedreich’s Ataxia (FA) is a rare disorder, which results in neurological and movement problems. It’s caused by a genetic mutation, which effects about one in 40,000 people. It usually emerges in children between 5-15, though occasionally in older patients as well.
The disease progressively deteriorates a patient’s ability to walk, move, or speak. It also interferes with hearing and vision, causes fatigue and heart problems, as well as respiratory problem. Cognitively, the patient stays the same, but their ability to control their body weakens. To learn more about this rare disease, click here.

Beyond symptoms management, FA is largely untreatable. Scientists understand what causes it, to an extent. A mutation in the FXN gene prevents production of Frataxin (FXN), an essential mitochondrial protein. Since they have identified the problem, now researchers are looking into different ways to treat it.

Just recently, a promising study came out. Researchers were looking into human hematopoietic stem and progenitor cells (HSPCs), a bone marrow derivative and promising avenue of research. HSPCs appear to be an effective way to regenerate or replace cells, after they have already been destroyed by a disease. However, some studies raise concerns that HSPCs could also have negative long-term effects.

The research team had two groups of FA-impacted mice. They transplanted the HSPCs into one of them, and then observed them in comparison with the control group.

The mice hadn’t been producing frataxin, which, of course, had been impairing their movement. After the transplant, their motor issues and their sensory degeneration were both turned around. The mitochondria in the brain, muscles, and heart all improved.

This is a big deal. Not only did this show a method to stop the progressive disease where it was, but it also turned some of the symptoms around. Cells that had died were replaced; the condition actually improved.

There’s an obvious limitation to this study. What works in a mouse might not work in a human. We’re different animals, with unique physiologies. Researchers were also unable to find the exact route this mechanism took, which is another limitation.

This avenue of treatment needs to be explored more before anyone can make a definitive statement about what this means for FA treatment in humans. Still, the idea that HSPC transplants could reverse cellular damage is an exciting thought, that might be real for humans not too far off in the future.


What are your thoughts on ongoing rare disease research? Let us know your rare disease experience today.

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