The epithelial Na+ channel: Progressing from Liddle's syndrome to essential hypertension

Journal of Hypertension

Volumn 21, Issue 5, 2003, Pages 855-857

  Persu, Alexandre ^a  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL; SODIUM ION;

EPITHELIUM; ESSENTIAL HYPERTENSION; GENE SEQUENCE; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; LIDDLE SYNDROME; NONHUMAN; NOTE; OOCYTE; PRIORITY JOURNAL; REGULATORY MECHANISM; SODIUM ABSORPTION; WILD TYPE; XENOPUS;

EID: 0038652103     PISSN: 02636352     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004872-200305000-00004     Document Type: Note

References (25)

1. + homeostasis and hypertension. Endocr Rev 2002; 23:258-275.
2. Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 1994; 79:407-414.
3. Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, et al. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nature Genet 1995; 11:76-82.
4. Liddle GW, Bledsoe T, Coppage WS. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Physician 1963; 76:199-213.
5. + channel in essential hypertension. Hypertension 1998; 32:129-137.
6. + channel in essential hypertension. J Hypertens 1999; 17:639-645.
7. Ambrosius WT, Bloem LJ, Zhou L, Rebhun JF, Snyder PM, Wagner MA, et al. Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension. Hypertension 1999; 34:631-637.
8. Baker EH, Dong YB, Sagnella GA, Rothwell M, Onipinla AK, Markandu ND, et al. Hypertension in a London Black population is associated with a mutation (T594M) in the β subunit of the epithelial sodium channel. Lancet 1998; 351:1388-1392.
9. Su YR, Rutkowski MP, Klanke CA, Wu X, Cui Y, Pun RY. A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans. J Am Soc Nephrol 1996; 7:2543-2549.
10. + channel. Proc Natl Acad Sci USA 1997; 94:9962-9966.
11. Ferrari P. Genetics of the mineralocorticoid system in primary hypertension. Curr Hypertens Rep 2002; 4:18-24.
12. Nicod J, Bruhin D, Auer L, Vogt B, Frey FJ, Ferrari P, et al. A biallelic gene polymorphism of CYP11B2 predicts increased aldosterone-to-renin ratio in hypertensive patients [Abstract]. Joint Meeting of the Belgian Hypertension Committee and the Swiss Society of Hypertension, 30 November to 1 December 2003; Lugano.
13. Rayner BL, Owen P, King JA, Soule SG, Vreede H, Opie LH, et al. A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension. J Hypertens 2003; 21:921-926.
14. Botero-Velez M, Curtis JJ, Warnock DG. Brief report: Liddle's syndrome revisited - a disorder of sodium reabsorption in the distal tubule. N Engl J Med 1994; 330:178-181.
15. Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, et al. Genotype-phenotype analysis of a new family with Liddle's syndrome. J Hypertens 1997; 15:1091-1100.
16. Sagnella GA. Why is plasma renin activity lower in populations of African origin? J Hum Hypertens 2001; 15:17-25.
17. Pratt JH, Jones JJ, Miller JZ, Wagner MA, Fineberg NS. Racial differences in aldosterone excretion and plasma aldosterone concentrations in children. N Engl J Med 1989; 321:1152-1157.
18. Pratt JH, Manatunga AK, Bloem LJ, Li W. Racial differences in aldosterone excretion: a longitudinal study in children. J Clin Endocrinol Metab 1993; 77:1512-1515.
19. Baker EH, Ireson NJ, Carney C, Markandu ND, MacGregor GA. Transepithelial sodium absorption is increased in people of African origin. Hypertension 2001; 38:76-80.
20. Corvol P, Persu A, Gimenez-Roqueplo AP, Jeunemaitre X. Seven lessons from two candidate genes in human essential hypertension: angiotensinogen and epithelial sodium channel. Hypertension 1999; 33:1324-1331.
21. - channel. Cell 1995; 83:969-978.
22. 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.
23. Hiltunen TP, Hannila-Handelberg T, Petajaniemi N, Kantola I, Tikkanen I, Virtamo J, et al. Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit. J Hypertens 2002; 20:2383-2390.
24. Bubien JK, Watson B, Khan MA, Langloh AL, Fuller CM, Berdiev B, et al. Expression and regulation of normal and polymorphic epithelial sodium channel by human lymphocytes. J Biol Chem 2001; 276:8557-8566.
25. Baker E, Jeunemaitre X, Portal AJ, Grimbert P, Markandu N, Persu A, et al. Abnormalities of nasal potential difference measurement in Liddle's syndrome. J Clin Invest 1998; 102:10-14.