Friedreich ataxia (FRDA) is an autosomal recessive disease in Caucasians. In this disease, there is loss of sensory neurons and degeneration of several nerve pathways of the spinal cord and brain. The result, eventually, is very poor control of voluntary movements. Some patients have loss of white matter of the brain, and some develop an enlarged heart.
In FRDA, there is deficiency of a protein (frataxin), due to the genetic defect. Carriers of the defect remain healthy. Little is known about frataxin, except that it is iron-binding. Loss of frataxin causes oxidative stress, and low frataxin may result in mitochondrial disease. Treatment of FRDA consists of antioxidants to prevent mitochondrial damage. Iron chelators, used to treat frataxin deficient cells, were found to be beneficial for impaired mitochondria.
Coenzyme Q10 antioxidant is used to treat neurodegeneration, and pharmacologic derivatives of coenzyme Q10 have been developed. Genetic techniques are being used to increase the expression of frataxin. Histone deacetylase (HDAC) inhibitors may be of benefit. Butyric acid, an HDAC inhibitor, has been reported to increase the production of frataxin.
CONCLUSION: A number of techniques are being explored to improve treatment of Friedreich ataxia, such as a coenzyme Q10, vitamin E derivatives, HDAC inhibitors, and gene techniques to increase frataxin production. The best pharmacological approach at present is idebenone. (More epigenetic studies are needed.)
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