A High-Throughput Assay for Frataxin Allows for Newborn Screening, Diagnosis, and Treatment Monitoring of Friedreich Ataxia

摘要

Friedreich ataxia (FA or FRDA) is an autosomal recessive neurodegenerative disorder caused by mutations in the frataxin (FXN) gene located on chromosome 9q. Discovery of the genetic cause of FA has led to an understanding of the clinical and basic science aspects of the disorder and has implications for therapeutic discoveries. For example, a mutant mouse has been developed, allowing a model for treatment evaluation. However, as clinical trials have developed for this disorder, it has become apparent that although genetic testing is necessary for confirmation of the diagnosis, the current DNA-based testing is not suitable for population screening, nor can it help monitor potential treatments, leaving clinical researchers searching for a suitable biomarker. In this issue of Clinical Chemistry, Oglesbee et al. present new methodology that can be used in newborn screening, leading to an earlier diagnosis, and therefore a chance for therapeutic intervention, even before the development of symptoms. In addition, this technology allows for therapeutic monitoring, a necessity for clinical trials. The development of an improved technology for rapid, high-throughput diagnosis allows the possibility of newborn screening for FA. Early diagnosis can certainly allow for earlier treatments in the presymptomatic phase of this progressive disorder, which will be- much more likely to result in clinical improvements and better prognosis.