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

Su YR, Rutkowski MP, Klanke CA, Wu X, Cui Y, Pun RY, Carter V, Reif M, Menon AG
J Am Soc Nephrol. 1996 7 (12): 2543-9

PMID: 8989732

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.

MeSH Terms (19)

African Continental Ancestry Group Aldosterone Amiloride Amino Acid Sequence B-Lymphocytes Base Sequence Blood Pressure Codon Diuretics DNA Electric Conductivity Epithelial Sodium Channels European Continental Ancestry Group Genetic Variation Humans In Vitro Techniques Membrane Potentials Natriuresis Sodium Channels

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