Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aldosterone / blood
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Aldosterone / urine
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Amiloride / pharmacology
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Amino Acid Sequence
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B-Lymphocytes / metabolism
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Base Sequence
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Black People / genetics*
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Black or African American
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Blood Pressure / drug effects
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Blood Pressure / physiology
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Codon / metabolism
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DNA / genetics
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Diuretics / pharmacology
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Electric Conductivity
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Epithelial Sodium Channels
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Genetic Variation*
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Humans
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In Vitro Techniques
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Membrane Potentials
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Natriuresis / genetics
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Natriuresis / physiology
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Sodium Channels / drug effects
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Sodium Channels / genetics*
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Sodium Channels / metabolism
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White People / genetics
Substances
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Codon
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Diuretics
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Epithelial Sodium Channels
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Sodium Channels
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Aldosterone
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Amiloride
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DNA