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Chen, C., Ridzon, D.A., Broomer, A.J., Zhou, Z., Lee, D.H., Nguyen, J.T., Barbisin, M., Xu, N.L., Mahuvakar, V.R., Andersen, M.R., Lao, K.Q., Livak, K.J. and Guegler, K.J. (2005) Real-Time Quantification of microRNAs by Stem-Loop RT-PCR. Nucleic Acids Research, 33, e179.

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• TITLE: Urinary Excretion of microRNAs in Young Fabry Disease Patients with Mild or Absent Nephropathy

  AUTHORS: Sebastián Jaurretche, Graciela Venera, Norberto Antongiovanni, Fernando Perretta, Germán R. Perez

  KEYWORDS: Fabry Nephropathy, Biomarkers, Urinary microRNA, Renal Fibrosis, Early Diagnosis

  JOURNAL NAME: Open Journal of Nephrology, Vol.8 No.3, September 11, 2018

  ABSTRACT: Fabry disease (FD) clinical manifestations often start in childhood. Among the FD complications, renal failure causes significant morbidity and mortality. Early diagnosis and treatment of FD nephropathy in children may be critical to preserve renal function. In proteinuric progressive nephropathies it has been described that pro-fibrotic miR-21, miR-192, and miR-433 families are activated and that anti-fibrotic miR-29 and miR-200 families are inhibited. Objective: Analyze urinary excretion of microRNAs related to renal fibrosis in FD patients with mild or absent nephropathy. Patients with confirmed diagnosis of FD under 18 years of age were compared with healthy subjects. Patients were classified into two groups: 1) Patients with urinary excretion profile of microRNAs indicative of renal fibrosis; and 2) Patients with urinary excretion profile of microRNAs not indicative of renal fibrosis. Results: 9 healthy subjects were enrolled in the study (18.66 ± 13.43 years), 4 males and 5 females. All of them presented normal eFGR without pathological albuminuria. FD population: 12 patients (10.33 ± 3.93 years) were studied, 5 males and 7 females. Patients presented 2 different genotypes: L415P (6 patients) and E398X (6 patients). The urinary excretion profile of microRNAs indicative of renal fibrosis was present in 4 patients (2 with L415P genotype and 2 with E398X genotype), all of them with a decreased of miR-29 and/or miR-200. No patient presented increased miR-21, miR-192 and/or miR-433. Decreased α-gal-A activity was the only variable associated with statistical significance (p ≤ 0.01) to urinary excretion profile of microRNA indicative of renal fibrosis. Conclusions: Young FD patients with classical mutations of GLA gene and mild or absent nephropathy could present a profile of urinary excretion of microRNAs indicative of renal fibrosis associated with decreased α-gal-A activity independently of the other variables. Our findings could suggest a regulation of microRNAs not mediated by TGF-β in FD nephropathy.