Format

Send to

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

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

Author information

1
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
2
Instituto de Investigación Sanitaria INCLIVA, Mixt Unit for rare diseases INCLIVA-CIPF, Avenida de Menéndez y Pelayo, 4, 46010, Valencia, Spain.
3
Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, Av/Blasco Ibáñez, 15, 46010, Valencia, Spain.
4
Instituto de Investigación Sanitaria INCLIVA, INCLIVA Biobank, Avenida de Menéndez y Pelayo, 4, 46010, Valencia, Spain.
5
Instituto de Investigación Sanitaria IISLAFE, Av/Fernando Abril Martorell, 106, Torre A 7, 46026, Valencia, Spain.
6
Department of Neurology Hospital Nuestra Señora de Sonsoles, Ávila, Spain.
7
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain. Federico.v.pallardo@uv.es.
8
Instituto de Investigación Sanitaria INCLIVA, Mixt Unit for rare diseases INCLIVA-CIPF, Avenida de Menéndez y Pelayo, 4, 46010, Valencia, Spain. Federico.v.pallardo@uv.es.
9
Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, Av/Blasco Ibáñez, 15, 46010, Valencia, Spain. Federico.v.pallardo@uv.es.
10
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain. J.luis.garcia@uv.es.
11
Instituto de Investigación Sanitaria INCLIVA, Mixt Unit for rare diseases INCLIVA-CIPF, Avenida de Menéndez y Pelayo, 4, 46010, Valencia, Spain. J.luis.garcia@uv.es.
12
Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, Av/Blasco Ibáñez, 15, 46010, Valencia, Spain. J.luis.garcia@uv.es.

Abstract

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.

PMID:
28701783
PMCID:
PMC5507909
DOI:
10.1038/s41598-017-04996-9
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center