Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters

Journal of Hypertension

Volumn 29, Issue 3, 2011, Pages 475-483

  Acuña, Rocío ^a   Martínez De La Maza, Lilia ^a   Ponce Coria, José ^a   Vázquez, Norma ^a   Ortal Vite, Penélope ^a   Pacheco Alvarez, Diana ^b   Bobadilla, Norma A ^a   Gamba, Gerardo ^a  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b UNIVERSIDAD PANAMERICANA   (Mexico)

Author keywords

blood pressure; distal convoluted tubule; genetic variation; NCC; NKCC2; thiazide diuretics; thick ascending limb

Indexed keywords

CHLORIDE; SODIUM CHLORIDE COTRANSPORTER; SODIUM POTASSIUM CHLORIDE COTRANSPORTER;

ANIMAL CELL; ARTICLE; CELL LEVEL; CHLORIDE CELL LEVEL; CONTROLLED STUDY; GENE MUTATION; GENETIC SCREENING; HETEROLOGOUS EXPRESSION; HYPERTENSION; MUTANT; MUTATIONAL ANALYSIS; NONHUMAN; OOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; WILD TYPE; XENOPUS LAEVIS;

EID: 79951672418     PISSN: 02636352     EISSN: None     Source Type: Journal    
DOI: 10.1097/HJH.0b013e328341d0fd     Document Type: Article

References (42)

1. Guyton AC. Blood pressure control: special role of the kidneys and body fluids. Science 1991; 252:1813-1816. (Pubitemid 21917099)
2. Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell 2001; 104:45-556.
3. Cruz DN, Simon DB, Nelson-Williams C, Farhi A, Finberg K, Burleson L, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 2001; 37:1458-1464. (Pubitemid 34225392)
4. Fava C, Montagnana M, Rosberg L, Burri P, Almgren P, Jonsson A, et al. Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure. Hum Mol Genet 2008; 17:413-418.
5. Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40:592-599. (Pubitemid 351601207)
6. Devuyst O. Salt wasting and blood pressure. Nat Genet 2008; 40:495-496. (Pubitemid 351601231)
7. Wagner CA. How much is blood pressure in the general population determined by rare mutations in renal salt-transporting proteins? J Nephrol 2008; 21:632-634.
8. Gamba G, Miyanoshita A, Lombardi M, Lytton J, Lee WS, Hediger MA, Hebert SC. Molecular cloning, primary structure and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J Biol Chem 1994; 269:17713-17722. (Pubitemid 24218059)
9. Meade P, Hoover RS, Plata C, Vazquez N, Bobadilla NA, Gamba G, Hebert SC. cAMP-dependent activation of the renal-specific Na\+-K\+-2Cl-cotransporter is mediated by regulation of cotransporter trafficking. Am J Physiol Renal Physiol 2003; 284:F1145-F1154. (Pubitemid 36578441)
10. Plata C, Meade P, Hall AE, Welch RC, Vazquez N, Hebert SC, Gamba G. Alternatively spliced isoform of the apical Na-K-Cl cotransporter gene encodes a furosemide sensitive Na-Cl cotransporter. Am J Physiol Renal Physiol 2001; 280:F574-F582.
11. Plata C, Meade P, Vazquez N, Hebert SC, Gamba G. Functional properties of the apical Na\+-K\+-2Cl- cotransporter isoforms. J Biol Chem 2002; 277:11004-11012. (Pubitemid 34952857)
12. Ponce-Coria J, San Cristobal P, Kahle KT, Vazquez N, Pacheco-Alvarez D, De Los Heros P, et al. Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases. Proc Natl Acad Sci USA 2008; 105:8458-8463. (Pubitemid 351904778)
13. Gamba G, Saltzberg SN, Lombardi M,Miyanoshita A,Lytton J, Hediger MA, et al. Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter. Proc Natl Acad Sci USA 1993; 90:2749-2753. (Pubitemid 23113494)
14. Monroy A, Plata C, Hebert SC, Gamba G. Characterization of the thiazide-sensitive Na(\+)-Cl(-) cotransporter: a new model for ions and diuretics interaction. Am J Physiol Renal Physiol 2000; 279:F161-F169. (Pubitemid 30619557)
15. Vazquez N,MonroyA, Dorantes E, Munoz-Clares RA, Gamba G.Functional differences between flounder and rat thiazide-sensitive Na- Cl cotransporter. Am J Physiol Renal Physiol 2002; 282:F599-F607. (Pubitemid 34654506)
16. Hoover RS, Poch E, Monroy A, Vazquez N, Nishio T, Gamba G, Hebert SC. N-glycosylation at two sites critically alters thiazide binding and activity of the rat thiazide-sensitive Na(\+):Cl(-) cotransporter. J Am Soc Nephrol 2003; 14:271-282. (Pubitemid 36150849)
17. Wilson FH, Kahle KT, Sabath E, Lalioti MD, Rapson AK, Hoover RS, et al. Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. Proc Natl Acad Sci USA 2003; 100:680-684. (Pubitemid 36126112)
18. Rinehart J, Kahle KT, De Los HP, Vazquez N, Meade P, Wilson FH, et al. WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis. Proc Natl Acad Sci USA 2005; 102:16777-16782. (Pubitemid 41688853)
19. Kunchaparty S, Palcso M, Berkman J, Velazquez H, Desir GV, Bernstein P, et al. Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome. Am J Physiol 1999; 277:F643-F649. (Pubitemid 29526005)
20. Yang CL, Angell J, Mitchell R, Ellison DH. WNK kinases regulate thiazide-sensitive Na-Cl cotransport. J Clin Invest 2003; 111:1039-1045. (Pubitemid 36397480)
21. De Jong JC, Willems PH, Mooren FJ, van den Heuvel LP, Knoers NV, Bindels RJ. The structural unit of the thiazide-sensitive NaCl cotransporter is a homodimer. J Biol Chem 2003; 278:24302-24307. (Pubitemid 37548580)
22. De Jong JC, Van Der Vliet WA, van den Heuvel LP, Willems PH, Knoers NV, Bindels RJ. Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 2002; 13:1442-1448. (Pubitemid 34579232)
23. Starremans PG, Kersten FF, Knoers NV, van den Heuvel LP, Bindels RJ. Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol 2003; 14:1419-1426. (Pubitemid 36687042)
24. Gimenez I, Forbush B. Regulatory phosphorylation sites in the N-terminus of the renal Na-K-Cl cotransporter (NKCC2). Am J Physiol Renal Physiol 2005; 289:F1341-F1345. (Pubitemid 41681369)
25. De Jong JC, Willems PH, van den Heuvel LP, Knoers NV, Bindels RJ. Functional expression of the human thiazide-sensitive NaCl cotransporter in Madin-Darby canine kidney cells. J Am Soc Nephrol 2003; 14:2428-2435. (Pubitemid 37169328)
26. Richardson C, Rafiqi FH, Karlsson HK, Moleleki N, Vandewalle A, Campbell DG, et al. Activation of the thiazide-sensitive Na\+-Cl- cotransporter by the WNK-regulated kinases SPAK and OSR1. J Cell Sci 2008; 121:675-684. (Pubitemid 351524166)
27. Sabath E, Meade P, Berkman J, De Los Heros P, Moreno E, Bobadilla NA, et al. Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease. Am J Physiol Renal Physiol 2004; 287:F195-F203. (Pubitemid 38943934)
28. Pacheco-Alvarez D, San Cristobal P, Meade P, Moreno E, Vazquez N, Munoz E, et al. The Na-Cl cotransporter is activated and phosphorylated at the amino terminal domain upon intracellular chloride depletion. J Biol Chem 2006; 281:28755-28763. (Pubitemid 44507018)
29. Moreno E, Tovar-Palacio C, De Los Heros P, Guzman B, Bobadilla NA, Vazquez N, et al. A single nucleotide polymorphism alters the activity of the renal Na\+:Cl- cotransporter and reveals a role for transmembrane segment 4 in chloride and thiazide affinity. J Biol Chem 2004; 279:16553-16560. (Pubitemid 38509355)
30. Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 1992; 358:761-764.
31. De Los Heros P, Kahle KT, Rinehart J, Bobadilla NA, Vazquez N, San Cristobal P, et al. WNK3 bypasses the tonicity requirement for K-Cl cotransporter activation via a phosphatase-dependent pathway. Proc Natl Acad Sci USA 2006; 103:1976-1981. (Pubitemid 43228803)
32. Kahle KT, Rinehart J, De Los Heros P, Louvi A, Meade P, Vazquez N, et al. WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability. Proc Natl Acad Sci USA 2005; 102:16783-16788. (Pubitemid 41688854)
33. Gamba G. Molecular physiology and pathophysiology of the electroneutral cation-chloride cotransporters. Physiol Rev 2005; 85:423-493. (Pubitemid 40404634)
34. Hughes AD. How do thiazide and thiazide-like diuretics lower blood pressure? J Renin Angiotensin Aldosterone Syst 2004; 5:155-160. (Pubitemid 40352950)
35. Pressler CA, Heinzinger J, Jeck N, Waldegger P, Pechmann U, Reinalter S, et al. Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na\+-K\+-2Cl- co-transporter. J Am Soc Nephrol 2006; 17:2136-2142. (Pubitemid 44141903)
36. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008; 452:872-876. (Pubitemid 351550870)
37. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008; 40:695-701. (Pubitemid 351748875)
38. Arora P, Newton-Cheh C. Blood pressure and human genetic variation in the general population. Curr Opin Cardiol 2010; 25: 229-237.
39. Wang Y, O'Connell JR, McArdle PF, Wade JB, Dorff SE, Shah SJ, et al. Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci USA 2009; 106:226-231.
40. Rafiqi FH, Zuber AM, GloverM, RichardsonC, FlemingS, Jovanovic S,et al. Role of the WNK-activated SPAK kinase in regulating blood pressure. EMBO Mol Med 2010; 2:63-75.
41. Lifton RP. Individual genomes on the horizon. N Engl J Med 2010; 362:1235-1236.
42. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, et al. Genetic diagnosisby whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 2009; 106:19096-19101.