Autori: Marchese Emanuela, Zacchia Miriam, Caterino Marianna, Ruoppolo Margherita and Capasso Giovambattista.
Affiliazioni: (1)Dipartimento di Salute Mentale e Fisica e Medicina Preventiva, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, CEINGE Biotecnologie Avanzate, (2) Division of Nephrology, Department of Cardio-thoracic and Respiratory Sciences, University of Campania “Luigi Vanvitelli”, Naples
Bardet Biedl Syndrome (BBS) is rare genetic disorder characterized by a wide spectrum of clinical manifestations, including retinal dystrophy, polydactyly, obesity, cognitive impairment and renal dysfunction. The latter is the most important cause of morbidity and mortality, however the severity of kidney dysfunction is highly variable, ranging from the defect of urine concentration to the end stage renal disease. The genetic heterogeneity explains at least in part the variability of renal dysfunction, but the underlying molecular basis is poorly understood.
Aims: The present study aims to characterize urine proteomic profiles of BBS patients in order to identify 1) BBS specific markers, and 2) predictor factors of renal outcomes.
Methods: 14 BBS patients (7 males and 7 females) have been enrolled. Renal function as been assessed by estimating the glomerular filtration rate with the CKD-EPI formula. A pool of 20 healthy aged- and gender-matched individuals have been used as healthy controls. The differentially represented proteins were quantified by a quantitative label-free mass spectrometry approach.
Results: 42 proteins were over- or under-represented in BBS patients compared with controls; the majority of these proteins are involved in fibrosis, cell adhesion and extracellular matrix organization. Statistical analysis revealed that urine Fibronectin (u-FN) was significantly correlated with both the eGFR (r2=0.28; p<0.05) and with annual eGFR decline (ΔeGFR) (r2 =0.2389; p<0.05), in either male and female patients. These results may shed light into the patho-physiology of renal disease in BBS patients and may help to predict renal disease progression.