Mutations in the carboxy terminus of the β and γ subunits of the epithelial sodium channel are not present in patients with hypertensive crisis

European Journal of Clinical Investigation

Volumn 28, Issue 9, 1998, Pages 707-711

  Fodinger M ^a,b   Hirschl, M M ^a   Schedler, D ^a,b   Herkner, H ^a   Bur, A ^a   Laggner, A N ^a   Horl W H ^a,b   Sunder Plassmann, G ^a,b  

^a UNIVERSITY OF VIENNA   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Epithelial sodium channel; Genetics; Hypertension crisis

Indexed keywords

SODIUM CHANNEL;

ADULT; AGED; ALDOSTERONE BLOOD LEVEL; ARTICLE; CLINICAL TRIAL; DNA DETERMINATION; EPITHELIUM CELL; FEMALE; HUMAN; HUMAN TISSUE; HYPERTENSION; HYPOKALEMIA; MAJOR CLINICAL STUDY; MALE; MUTATION; PATHOPHYSIOLOGY; PLASMA RENIN ACTIVITY; POLYMERASE CHAIN REACTION; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; PROTEIN ANALYSIS; RISK FACTOR;

ADULT; AGED; ALDOSTERONE; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; EMERGENCIES; FEMALE; HUMANS; HYPERTENSION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; POTASSIUM; PROTEIN CONFORMATION; RENIN; SODIUM CHANNELS;

EID: 0031693719     PISSN: 00142972     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2362.1998.00369.x     Document Type: Article

References (17)

1. The Fifth Report of the Joint National Committee on Detection, Evaluation and Treatment of High Blood Pressure (JNC V). Arch Intern Med 1993; 153: 154-83.
2. Zampaglione B, Pascale C, Marchisio M, Cavallo-Perin P. Hypertensive urgencies and emergencies. Prevalence and clinical presentation. Hypertension 1996; 27: 144-7.
3. Rossier BC, Canessa CM, Schild L, Horisberger JD. Epithelial sodium channels. Curr Opin Nephrol Hypertens 1994; 3: 487-96.
4. Shimkets RA, Warnock DG, Bositis CM et al. Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell 1994; 79: 407-14.
5. Hansson JH, Schild L, Lu Y, Wilson TA et al. A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci USA 1995; 92: 11495-9.
6. Tamura H, Schild L, Enomoto N, Matsui N, Marumo F, Rossier BC, Sasaki S. Liddle disease caused by a missense mutation of β subunit of the epithelial sodium channel gene. J Clin Invest 1996; 97: 1780-4.
7. Jeunemaitre X, Bassalina F, Persu A et al. Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome. J Hypertens 1997; 15: 1091-100.
8. Hansson JH, Nelson-Williams C, Suzuki H et al. Hypertension caused by a truncated epithelial sodium channel γ subunir, genetic heterogeneity of Liddle syndrome. Nature Genet 1995; 11: 76-82.
9. Schild L, Canessa CM, Shimkets RA, Gautschi I, Lifton RP, Rossier BC. A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. Proc Nall Acad Sci USA 1995; 92: 5699-703.
10. + channel. Cell 1995; 83: 969-78.
11. Su YR, Rutkowski MP, Klanke CA et al. A novel variant of the β-subunit of the amiloride-sensitive sodium channel in African Americans. J Am Soc Nephrol 1996; 7: 2543-9.
12. Chang H, Fujita T. Lack of mutations in epithelial sodium channel β-subunit gene in human subjects with hypertension. J Hypertens 1996; 14: 1417-9.
13. Voilley N, Bassilana F, Migon C et al. Cloning, chromosomal localization and physical linkage of the beta and gamma subunits of the human amiloride-sensitive sodium channel. Genomics 1995; 28: 560-5.
14. Thomas CP, Doggett NA, Fisher R, Stokes JB. Genomic organization and the 5′ flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel. J Biol Chem 1996; 271: 26062-6.
15. Liddle GW, Bledsoe T, Coppage WS. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Physicians 1963; 76: 199-213.
16. Gadallah MF, Abreo K, Work J. Liddle's syndrome, an underrecognized entity: a report of four cases, including the first report in black individuals. Am J Kidney Dis 1995; 25: 829-35.
17. Botero-Velez M, Curtis JJ, Warnock DG. Brief report: Liddie's syndrome revisited - a disorder of sodium reabsorption in the distale tubule. N Engl J Med 1994; 330: 178-81.