Genetic analysis of the epithelial sodium channel in Liddle's syndrome

Journal of Hypertension

Volumn 16, Issue 8, 1998, Pages 1131-1135

  Uehara, Yoshinari ^a   Sasaguri, Manabu ^a   Kinoshita, Akio ^a   Tsuji, Emiko ^a   Kiyose, Haruna ^a   Taniguchi, Harumi ^a   Noda, Keita ^a   Ideishi, Munehito ^a   Inoue, Junnosuke ^b   Tomita, Kimio ^b   Arakawa, Kikuo ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b KUMAMOTO UNIVERSITY   (Japan)

Author keywords

Liddle's syndrome; Sodium epithelial channel

Indexed keywords

AMILORIDE; PROTEIN SUBUNIT; RENIN; SODIUM CHANNEL; SPIRONOLACTONE;

ADOLESCENT; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; DNA SEQUENCE; EPITHELIUM; FEMALE; GENETIC ANALYSIS; HUMAN; HYPERTENSION; HYPOKALEMIA; LIDDLE SYNDROME; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 7344240412     PISSN: 02636352     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004872-199816080-00008     Document Type: Article

References (17)

1. Canessa CM, Horisberger J, Rossier BC. Epithelial sodium channel related to proteins involved in neurodegeneration. Nature (Lond) 1993; 361:467-470.
2. Canessa CM, Shild L, Buell G, Thorens B, Gautschi I, Horisberger J, et al Amiloride-sensitive epithelial Na channel is made of three homologous subunits. Nature (Lond) 1994; 367:463-467.
3. Fuller P. Epithelial sodium channel and hypertension. J Hypertens 1996; 14:1383-1386.
4. Liddle GW, Bledsoe T, Coppage WS. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Am Assoc Physiol 1963; 76:199-213.
5. Botero-Velez M, Curtis JJ, Warnock DG. Liddle's syndrome revisited: disorder of sodium reabsorption in the distal tubule. N Engl J Med 1994; 330:178-181.
6. Shimkets RA, Warnock D, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell 1994; 79:407-414.
7. Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, et al. Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome. Nature Genet 1995; 11:76-82.
8. Hansson JH, Schild L, Lu Y, Wilson TR, Shimkets R, Nelson-Williams C, et al. A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle's syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci USA 1995; 92:11495-11499.
9. Tamura H, Schild L, Enomoto N, Matsui N, Marumo F, Rossier BC. et al. Liddle disease caused by a missense mutation of β subunit of the epithelial sodium channel gene. J Clin Invest 1996; 97:1780-1784.
10. Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC, Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J 1996; 15:2381-2387.
11. Schild L, Cannessa C, 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 Natl Acad Sci USA 1995; 92:5699-5703.
12. Cohen GB, Ren R, Baltimore D. Modular binding domains in signal transduction proteins. Cell 1995; 80:237-248.
13. + channel deleted in Liddle's syndrome. EMBO J 1996; 15:2371-2380
14. Inoue J, Yamaguchi K, Iwaoka D, Naomi S, Tokunaga H, Disahi T, et al. A family with Liddle's syndrome caused by a new missense mutation of β subunit of the epithelial sodium channel [abstract]. Hypertens Res 1996; 19:305.
15. Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, et al. Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome. J Hypertens 1997: 15:1091-1100.
16. Chang H, Fujita T. Lack of mutation in epithelial sodium channel β-subunit gene in human subjects with hypertension. J Hypertens 1996; 14:1417-1419.
17. Kreutz R, Struk B, Rubattu S, Hubner N, Szpirer J, Szpirer C, et al. Role of the α-, β-, and γ-subunits of epithelial sodium channel in a model of polygenic hypertension. Hypertension 1997; 29:131-136.