Research Papers: Pathology:

A pilot study of circulating microRNAs as potential biomarkers of Fabry disease

Giuseppe Cammarata _, Simone Scalia, Paolo Colomba, Carmela Zizzo, Antonio Pisani, Eleonora Riccio, Michaela Montalbano, Riccardo Alessandro, Antonello Giordano and Giovanni Duro

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Oncotarget. 2018; 9:27333-27345. https://doi.org/10.18632/oncotarget.25542

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Giuseppe Cammarata1, Simone Scalia1, Paolo Colomba1, Carmela Zizzo1, Antonio Pisani2, Eleonora Riccio2, Michaela Montalbano1, Riccardo Alessandro1,3, Antonello Giordano4 and Giovanni Duro1

1Institute of Biomedicine and Molecular Immunology, National Research Council, Palermo, Italy

2Department of Public Health, Section of Nephrology, Federico II University of Naples, Naples, Italy

3Department of Biopathology and Medical Biotechnology, University of Palermo, Palermo, Italy

4Department of Neurology, Guzzardi Hospital, Vittoria, Italy

Correspondence to:

Giuseppe Cammarata, email: [email protected]

Keywords: Fabry disease; microRNA; biomarker; LVH; ERT; Pathology

Received: February 02, 2018     Accepted: May 16, 2018     Published: June 08, 2018


Patients suffering from Fabry disease (FD), a lysosomal storage disorder, show a broad range of symptoms and the diagnosis followed by the therapeutic decision remains a great challenge. The biomarkers available today have not proven to be useful for predicting the evolution of the disease and for assessing response to therapy in many patients. Here, we used high-throughput microRNA profiling methodology to identify a specific circulating microRNA profile in FD patients. We discovered a pattern of 10 microRNAs able to identify FD patients when compared to healthy controls. Notably, two of these: the miR199a-5p and the miR-126-3p are able to discriminate FDs from the control subjects with left ventricular hypertrophy, a frequent but non-specific FD symptom. These same microRNAs are also sensitive to enzyme replacement therapy showing variation in the subjects under treatment. Furthermore, two other microRNAs of the profile, the miR-423-5p and the miR-451a, seem useful to highlight cardiac involvement in FD patients. A literature and database search revealed that miR-199a-5p, miR-126-3p, miR-423-5p and miR-451a are known to be linked to pathological states that occur during the FD development. In particular, miR-199a-5p, and miR-126-3p are involved in endothelial dysfunction and miR-423-5p and miR-451a in myocardial remodeling.

In conclusion, in this study we identified a common plasma microRNA profile in FD patients, useful not only for the correct classification of Fabry patients regardless of sex and age, but also to evaluate the response to therapy. Furthermore, our observations suggest that some microRNAs of this profile demonstrate prognostic qualities.

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