Document Detail

A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans.
MedLine Citation:
PMID:  8989732     Owner:  NLM     Status:  MEDLINE    
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.
Y R Su; M P Rutkowski; C A Klanke; X Wu; Y Cui; R Y Pun; V Carter; M Reif; A G Menon
Publication Detail:
Type:  In Vitro; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of the American Society of Nephrology : JASN     Volume:  7     ISSN:  1046-6673     ISO Abbreviation:  J. Am. Soc. Nephrol.     Publication Date:  1996 Dec 
Date Detail:
Created Date:  1997-04-01     Completed Date:  1997-04-01     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9013836     Medline TA:  J Am Soc Nephrol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2543-9     Citation Subset:  IM    
Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati Medical Center, OH 45267-0524, USA.
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MeSH Terms
African Continental Ancestry Group / genetics*
Aldosterone / blood,  urine
Amiloride / pharmacology
Amino Acid Sequence
B-Lymphocytes / metabolism
Base Sequence
Blood Pressure / drug effects,  physiology
Codon / metabolism
DNA / genetics
Diuretics / pharmacology
Electric Conductivity
Epithelial Sodium Channel
European Continental Ancestry Group / genetics
Genetic Variation*
Membrane Potentials
Natriuresis / genetics,  physiology
Sodium Channels / drug effects,  genetics*,  metabolism
Reg. No./Substance:
0/Codon; 0/Diuretics; 0/Epithelial Sodium Channel; 0/Sodium Channels; 2609-46-3/Amiloride; 52-39-1/Aldosterone; 9007-49-2/DNA

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