Frataxin Protein Levels for the Assessment of Friedreich Ataxia
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Friedreich ataxia is an inherited disorder causing progressive damage to the nervous system due to a deficiency in frataxin, a critical protein for iron metabolism, antioxidant protection, and overall energy production. An immunoassay recently developed at Mayo Clinic to measuring frataxin concentration in whole blood and in dried blood spots is applicable to the diagnosis, population and newborn screening, and therapeutic monitoring of this disorder. Early diagnosis in the form of newborn screening appears promising for early intervention to reduce and prevent morbidity and mortality of Friedreich ataxia.
- Devin Oglesbee, PhD
- Consultant in Laboratory Genetics and Medical Genetics, Mayo Clinic, Rochester, Minnesota
- FFRWB / Friedreich Ataxia, Frataxin, Quantitative, Whole Blood
- FFRBS / Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
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