As we know, Friedreich's Ataxia (FA) is a genetic disease. You have FA if both of your parents passed on a damaged allele to you. Every FA patient experiences the disease differently - there are different onset ages, symptoms and severities. What we have learned is that FA symptoms are caused by low cellular levels of a substance called frataxin, due to insufficient activity of frataxin genes in our DNA. Frataxin is a protein which our bodies produce naturally. Frataxin is involved in cellular energy generation and iron metabolism. Frataxin degrades naturally with a half-life of about 2.5 days. In healthy people, the body is producing enough new frataxin to replace the degraded frataxin, therefore the degradation is not a problem. With FA patients, the body does not produce enough frataxin. This shortage of frataxin causes a “skip” in the wiring of neurons in our sensory nerves, which send signals the motor nerves. To simplify: FA patients don’t produce enough of this energy protein, frataxin, quickly enough which causes lapses in our nervous system communications. So the key is to find a way to increase frataxin levels in FA patients. It is believed this could be accomplished through medications and/or through gene therapy. There are several clinical trials underway which look promising (EPI-743, Interferon Gamma, etc., for you Google-prone folks). On the drug front, no “one-and-done” medication is expected to be developed as THE cure. It would most likely be a “cocktail” of medications to increase frataxin levels. To read more about clinical trials taking place, check here.
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