Researchers of the Group of Pathophysiology of the Rare Illnesses led by the Dr. Federico Pallardó in the Facultat of Medicine of the Universitat of València, the INCLIVA and the Centre of Investigation Biomédica in Network of Rare Illnesses (CIBERER), have coordinated an investigation that has identified a microRNA circulante (miR-323-3p) like potential biomarcador that the patients with ataxia of Friedreich can suffer cardiomiopatía, symptom that is in some cases associated to this rare illness neurodegenerativa hereditary.
The authors of this study, published in the magazine Scientific reports, have identified seven microRNAs circulantes that differentiate to the affected of ataxia of Friedreich of the healthy individuals. The authors propose that these microRNAs have a key function in the modulation of different roads of signaling that regulate the pathophysiology of the ataxia of Friedreich. Therefore, they can be used to characterise the variation fenotípica and the prognosis of the illness, and to stratify to the patients with risk to suffer cardiomiopatía.
Until the moment, good part of the investigation in the ataxia of Friedreich had focalizado in understanding the function of the frataxina in the mitochondrion. This new investigation helps to improve the global understanding of the pathophysiology of this illness.
This investigation forms part of the work of thesis doctoral that will defend próximamente Marta Dry Cervera. Beside the members of the Universitat of València, the INCLIVA and the CIBERER, in this work have participated researchers of the IIS The Faith and the Hospital Our Lady of Sonsoles of Ávila.
Ataxia of Friedreich in Orphanet
Article of reference:
Circulating miR-323-3p is to biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients. M. Dry-Cervera, D. González-Rodríguez, J. S. Ibáñez-Hairs, L. Peiró-Chova, P. González-Cape, And. García-López, J. J. Vílchez, I. Sanz-Galician, F. V. Pallardó & J. L. García-Giménez. Scientific reports. DOI: 10.1038/s41598-017-04996-9
