Liddle disease caused by a missense mutation of β subunit of the epithelial sodium channel gene

Journal of Clinical Investigation

Volumn 97, Issue 7, 1996, Pages 1780-1784

  Tamura, Hlroyuki ^a   Schild, Laurent ^b   Enomoto, Nobuyuki ^a   Matsui, Noriaki ^a   Marumo, Fumiaki ^a   Rossier, Bernard C ^b   Sasaki, Sei ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

amiloride; hereditary disease; hypertension; kidney; pseudoaldosteronism

Indexed keywords

ALDOSTERONE; DNA; HISTIDINE; POTASSIUM; SODIUM CHANNEL; TYROSINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BETA CHAIN; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DELETION MUTANT; FEMALE; HEREDITARY HYPERTENSION; HUMAN; HUMAN CELL; HYPOKALEMIA; MALE; MISSENSE MUTATION; NONHUMAN; OOCYTE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; XENOPUS;

EID: 0029918734     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118606     Document Type: Article

References (18)

1. Canessa, C.M . J. Horisberger, and B C. Rossier. 1993. Epithelial sodium channel related to proteins involved in neurodegeneration. Nature (Lond.). 361:467-470.
2. Canessa, C.M. L. Schild, G. Buell, B. Thorens, I. Gautschi, J Horisberger, and B.C. Rossier. 1994. Amiloride-sensitive epithelial Na channel is made of three homologous subunits. Nature (Lond.) 367:463-467
3. Liddle, G.W., T. Bledsoe, and W.S. Coppage. 1963. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans. Am. Assoc. Physiol 76:199-213.
4. Botero-Velez, M., J.J Curtis, and D.G. Warnock. 1994. Liddle's syndrome revisited: a disorder of sodium reabsorption in the distal tubule. N. Engl. J. Med. 330:178-181.
5. Shimkets, R.A., D.G. Warnock, C.M. Bositis, C. Nelson-Williams, J.H. Hansson, M. Schambelan, J.R. Gill, S. Ulick, R V. Milora, J. W. Findling, et al. 1994. Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell 79:407-414.
6. Hansson, J.H., C. Nelson-Williams, H. Suzuki, L. Schild, R. Shimkets, Y. Lu, C. Canessa, T. Iwasaki, B. Rossier, and R.P. Lifton. 1995. Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 11-76-82.
7. Hansson, J.H., L. Schild. Y. Lu, T. Wilson, R. Shimkets, C. Nelson-Williams, B.C. Rossier, and R.P. Lifton. 1995. 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. 92:11495-11499.
8. Matsui, N., M. Matsuda, T. Shiigai, S. Koshikawa, and Y. Yoshikawa 1976. Two brothers affected by Liddle's syndrome. Saishinigaku. 31:1005-1009. (Published in Japanese)
9. Voilley, N., E Lingueglia, G. Champigny, M.-G. Mattei, R. Waldmann, M. Lazdunski, and P. Barbry. 1994. The lung amiloride-sensitive Na channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning. Proc. Natl. Acad. Sci. USA. 91:247-251.
10. McDonald. F.J., P.M. Snyder. P.B. McCray, and M.J. Welsh. 1994. Cloning, expression, and tissue distribution of a human amiloride-sensitive Na channel. Am. J. Physiol. (Lung Cell. Mol. Physiol). 266:L728-L734.
11. Schild, L., C.M. Canessa, R A. Shimhetes, I. Gautschi, R.P. Lifton, and B. Rossier. 1995. 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. 92:5699-5703.
12. Ren, R., B.J. Mayer, P Cicchetti. and D. Baltimore. 1993. Identification of a ten-amino acid proline-rich SH3 binding site. Science (Wash. DC). 259: 1157-1161.
13. Pawson, T. 1995. Protein modules and signaling networks. Nature (Lond.). 343:573-580.
14. Drubin, D.G., J. Mulholland, Z.M. Zhu, and D. Botstein. 1990. Homology of a yeast actin-binding protein to signal transduction proteins and myosin-I. Nature (Lond.) 343:288-290
15. Cohen, G.B., R. Ren, and D. Baltimore. 1995. Modular binding domains in signal transduction proteins. Cell. 80:237-248.
16. Rotin, D., D. Bar-Sagi, H. O'Brodovich, J. Merilainen. V.P. Lehto, C.M. Canessa, B C. Rossier, and G.P. Downey. 1994. An SH3 binding region in the epithelial Na channel (αrENaC) mediates its localization at the apical membrane. EMBO (Eur. Mol. Biol. Organ.) J. 13:4440-4450.
17. Matsumoto, P.S., A. Ohara, P. Duchatella, and D.C. Eaton. 1993. Tyrosine kinase regulates epithelial sodium transport in A6 cells. Am. J. Physiol. 264:C246-C250.
18. Rossier, C.B., C.M. Canessa, L. Schild, and J.D. Horisberger. 1994. Epithelial sodium channels. Curr Opin. Nephrol. Hypertens. 3:487-496.