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

Connections (1)

This publication is referenced by other Labnodes entities:

Links