Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers

John H. Willis, Grazia Isaya, Oleksandr Gakh, Roderick A. Capaldi, Michael F. Marusich

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


Friedreich's Ataxia (FA) is an inherited neurodegenerative disease caused by reduction in levels of the mitochondrial protein frataxin. Currently there are no simple, reliable methods to accurately measure the concentrations of frataxin protein. We designed a lateral-flow immunoassay that quantifies frataxin protein levels in a variety of sample materials. Using recombinant frataxin we evaluated the accuracy and reproducibility of the assay. The assay measured recombinant human frataxin concentrations between 40 and 4000 pg/test or approximately 0.1-10 nM of sample. The intra and inter-assay error was <10% throughout the working range. To evaluate clinical utility of the assay we used genetically defined lymphoblastoid cells derived from FA patients, FA carriers and controls. Mean frataxin concentrations in FA patients and carriers were significantly different from controls and from one another (p = 0.0001, p = 0.003, p = 0.005, respectively) with levels, on average, 29% (patients) and 64% (carriers) of the control group. As predicted, we observed an inverse relationship between GAA repeat number and frataxin protein concentrations within the FA patient cohort. The lateral flow immunoassay provides a simple, accurate and reproducible method to quantify frataxin protein in whole cell and tissue extracts, including primary samples obtained by non-invasive means, such as cheek swabs and whole blood. The assay is a novel tool for FA research that may facilitate improved diagnostic and prognostic evaluation of FA patients and could also be used to evaluate efficacy of therapies designed to cure FA by increasing frataxin protein levels.

Original languageEnglish (US)
Pages (from-to)491-497
Number of pages7
JournalMolecular genetics and metabolism
Issue number4
StatePublished - Aug 2008


  • Diagnostic
  • Frataxin
  • Friedreich's ataxia
  • Lateral flow immunoassay
  • Mitochondria
  • Prognostic
  • Theranostic

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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