Mutations in the ROMK Gene in Antenatal Bartter Syndrome Are Associated with Impaired K+Channel Function

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 salt wasting. In some of these patients mutations in the renal potassium channel ROMK (KCN...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 1997-01, Vol.230 (3), p.641-645
Main Authors: Derst, Christian, Konrad, Martin, Köckerling, Arnold, Károlyi, Lothar, Deschenes, Georges, Daut, Jürgen, Karschin, Andreas, Seyberth, Hannsjörg W.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Animals
Bartter Syndrome - genetics
Bartter Syndrome - physiopathology
Child
Child, Preschool
Female
Genes
Humans
Kidney - metabolism
Kidney - physiopathology
Male
Mutation
Potassium Channels - genetics
Potassium Channels - metabolism
Potassium Channels - physiology
Rats
Syndrome
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Summary: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 salt wasting. 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 KIRchannel. In contrast mutated ROMK1 cDNAs expressed either no or only infrequently small currents (
ISSN:0006-291X
1090-2104
DOI:10.1006/bbrc.1996.6024