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Titolo:
MUTATIONS IN THE ROMK GENE IN ANTENATAL BARTTER-SYNDROME ARE ASSOCIATED WITH IMPAIRED K+ CHANNEL FUNCTION
Autore:
DERST C; KONRAD M; KOCKERLING A; KAROLYI L; DESCHENES G; DAUT J; KARSCHIN A; SEYBERTH HW;
Indirizzi:
UNIV MARBURG,DEPT PEDIAT,DEUTSCHHAUSSTR 12 D-35033 MARBURG GERMANY UNIV MARBURG,DEPT PEDIAT D-35033 MARBURG GERMANY UNIV MARBURG,INST PHYSIOL D-35033 MARBURG GERMANY UNIV MARBURG,INST HUMAN GENET D-35033 MARBURG GERMANY ARMAND TROUSSEAU HOSP,DEPT PEDIAT PARIS FRANCE MAX PLANCK INST BIOPHYS CHEM D-37077 GOTTINGEN GERMANY
Titolo Testata:
Biochemical and biophysical research communications
fascicolo: 3, volume: 230, anno: 1997,
pagine: 641 - 645
SICI:
0006-291X(1997)230:3<641:MITRGI>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
THICK ASCENDING LIMB; POTASSIUM CHANNEL; HYPERCALCIURIA; LOOP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
C. Derst et al., "MUTATIONS IN THE ROMK GENE IN ANTENATAL BARTTER-SYNDROME ARE ASSOCIATED WITH IMPAIRED K+ CHANNEL FUNCTION", Biochemical and biophysical research communications, 230(3), 1997, pp. 641-645

Abstract

Children with the antenatal variant of Bartter syndrome present the typical pattern of impaired salt reabsorption in the thick ascending limb of Henle's loop (TALH) resulting in marked ante- and postnatal saltwasting. In some of these patients mutations in the renal potassium channel ROMK (KCNJ1) have been found. We analyzed the electrophysiological function of five recently described ROMK channel mutations (V72E, D108H, P110L, A198T and V315G). In whole cell patch clamp recordings wildtype rat ROMK1 exhibited K+ currents of >1 nA at a membrane potential of 100 mV when transfected into COS-7 kidney cells, These currents were sensitive to external Ba2+ and internal Mg2+, which are typical features of the inwardly rectifying K-IR channel. In contrast mutated ROMK1 cDNAs expressed either no or only infrequently small currents (<200 pA). Loss of tubular K+ channel function probably prevents apical membrane potassium recycling with secondary inhibition of Na-K-2Cl-cotransport in the TALH. We conclude that mutations in the potassium channel ROMK are the primary events causing renal salt wasting in a subset of patients with the antenatal variant of Bartter syndrome. (C) 1997 Academic Press

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 17:44:04