Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients

Sci Rep. 2017 Jul 12;7(1):5237. doi: 10.1038/s41598-017-04996-9.


MicroRNAs (miRNAs) are noncoding RNAs that contribute to gene expression modulation by regulating important cellular pathways. In this study, we used small RNA sequencing to identify a series of circulating miRNAs in blood samples taken from Friedreich's ataxia patients. We were thus able to develop a miRNA biomarker signature to differentiate Friedreich's ataxia (FRDA) patients from healthy people. Most research on FDRA has focused on understanding the role of frataxin in the mitochondria, and a whole molecular view of pathological pathways underlying FRDA therefore remains to be elucidated. We found seven differentially expressed miRNAs, and we propose that these miRNAs represent key mechanisms in the modulation of several signalling pathways that regulate the physiopathology of FRDA. If this is the case, miRNAs can be used to characterize phenotypic variation in FRDA and stratify patients' risk of cardiomyopathy. In this study, we identify miR-323-3p as a candidate marker for phenotypic differentiation in FRDA patients suffering from cardiomyopathy. We propose the use of dynamic miRNAs as biomarkers for phenotypic characterization and prognosis of FRDA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biological Variation, Population*
  • Biomarkers / blood*
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / etiology
  • Cardiomyopathies / pathology
  • Case-Control Studies
  • Cell Proliferation
  • Cells, Cultured
  • Female
  • Follow-Up Studies
  • Friedreich Ataxia / complications*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • MicroRNAs / blood
  • MicroRNAs / genetics*
  • Middle Aged
  • Prognosis
  • Young Adult


  • Biomarkers
  • MIRN323 microRNA, human
  • MicroRNAs