Molecular genetics has allowed the identification of the structure and function of the several main transporters and ion channels involved in renal disorders. Between that, distal renal tubular acidosis (dRTA) received increased attention because of advances in the understanding of the molecular mechanism. We studied 90 subjects with dRTA (where possible also their families) analyzing the SLC4A1/ATP6V1B1/ATP6V0A4 genes and we focused on the clinical features and their correlation with the different types of mutations. Furthermore, in some of our cases we reported the association with medullary sponge kidney (MSK), a rare congenital renal disorder, characterized by diffuse ectasia of the tubules precaliceali collecting duct. In some subjects we have found variants in ATP6V0A4 and ATP6V1B1 genes, providing evidence of a possible role of the subunits B1 and a4 apical pump H+ATPase in the pathogenesis of the MSK. Of all the individuals tested, 35 were negative after molecular analysis of the genes above cited and then we polarized our efforts to characterize from a clinical-molecular point of view families affected by RTA applying next generation sequencing strategy. We decided also to analyze genes encoding for SLC4A4/NBCe1, for ENaC subunits, those responsible for PHA2 and for the other the V-ATPase subunits and other pathway’s genes that for us may be responsible of this genetic disorders (SLC26A11 and SLC4A9 subunits, SLC4A7 and SLC4A8 transporters, isoforms of the carbonic anhydrase, various G-protein-coupled receptors activated by protons or divalent cations). We will show the results of this new pilot study.

Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis / V. Palazzo; A. Provenzano; R. Artuso; E. Andreucci; M. Materassi; F. Emma; E. Benetti; M. Caruso; G. Ghiggeri; M. Genuardi; P. Romagnani; I. Pela; S. Giglio. - ELETTRONICO. - 21:(2013), pp. 350-350. (Intervento presentato al convegno European Human Genetics Conference).

Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis

PROVENZANO, ALDESIA;ROMAGNANI, PAOLA;S. Giglio
2013

Abstract

Molecular genetics has allowed the identification of the structure and function of the several main transporters and ion channels involved in renal disorders. Between that, distal renal tubular acidosis (dRTA) received increased attention because of advances in the understanding of the molecular mechanism. We studied 90 subjects with dRTA (where possible also their families) analyzing the SLC4A1/ATP6V1B1/ATP6V0A4 genes and we focused on the clinical features and their correlation with the different types of mutations. Furthermore, in some of our cases we reported the association with medullary sponge kidney (MSK), a rare congenital renal disorder, characterized by diffuse ectasia of the tubules precaliceali collecting duct. In some subjects we have found variants in ATP6V0A4 and ATP6V1B1 genes, providing evidence of a possible role of the subunits B1 and a4 apical pump H+ATPase in the pathogenesis of the MSK. Of all the individuals tested, 35 were negative after molecular analysis of the genes above cited and then we polarized our efforts to characterize from a clinical-molecular point of view families affected by RTA applying next generation sequencing strategy. We decided also to analyze genes encoding for SLC4A4/NBCe1, for ENaC subunits, those responsible for PHA2 and for the other the V-ATPase subunits and other pathway’s genes that for us may be responsible of this genetic disorders (SLC26A11 and SLC4A9 subunits, SLC4A7 and SLC4A8 transporters, isoforms of the carbonic anhydrase, various G-protein-coupled receptors activated by protons or divalent cations). We will show the results of this new pilot study.
2013
European Journal of Human Genetics
European Human Genetics Conference
V. Palazzo; A. Provenzano; R. Artuso; E. Andreucci; M. Materassi; F. Emma; E. Benetti; M. Caruso; G. Ghiggeri; M. Genuardi; P. Romagnani; I. Pela; S. Giglio
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/919753
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