Journal of the American Society of Nephrology, Vol 7, 2543-2549, Copyright © 1996 by American Society of Nephrology

REGULAR ARTICLES

A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans

YR Su, MP Rutkowski, CA Klanke, X Wu, Y Cui, RY Pun, V Carter, M Reif and AG Menon
Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati Medical Center, OH 45267-0524, USA.

The amiloride-sensitive sodium channel is responsible for the rate- limiting step of sodium reabsorption in the distal renal tubule, and thus may play a key role in the maintenance of sodium balance and blood pressure. In this study, a genetic variant that results in a change of threonine to methionine at amino acid 594 (T594 M) in the carboxy- terminus of the beta-subunit of the amiloride-sensitive sodium channel has been identified. This variant was present in 6.1% of African- American subjects (N = 231) but was not seen in Caucasians (N = 192). Whole cell voltage clamp of B-lymphocytes from individuals with the T594 M variant showed similar basal membrane slope conductance, compared with the wild-type but increased response to cAMP analog.

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