메뉴 건너뛰기




Volumn 23, Issue 1, 2014, Pages 1-8

Rare mutations in renal sodium and potassium transporter genes exhibit impaired transport function

Author keywords

blood pressure; hypertension; kidney; loop diuretic; NKCC2 SLC12A1; ROMK KCNJ1 Kir1.1; salt; SLC12A3; thiazide

Indexed keywords

ALDOSTERONE; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNJ1; POTASSIUM CHANNEL KCNJ5; SODIUM CHLORIDE; SODIUM CHLORIDE COTRANSPORTER; SODIUM POTASSIUM CHLORIDE COTRANSPORTER; UNCLASSIFIED DRUG;

EID: 84890564817     PISSN: 10624821     EISSN: 14736543     Source Type: Journal    
DOI: 10.1097/01.mnh.0000437204.84826.99     Document Type: Review
Times cited : (15)

References (38)
  • 1
    • 84856261411 scopus 로고    scopus 로고
    • Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase
    • Salvi E, Kutalik Z, Glorioso N, et al. Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase. Hypertension 2012; 59:248-255.
    • (2012) Hypertension , vol.59 , pp. 248-255
    • Salvi, E.1    Kutalik, Z.2    Glorioso, N.3
  • 2
    • 80053907554 scopus 로고    scopus 로고
    • Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
    • Ehret GB, Munroe PB, Rice KM, et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011; 478:103-109.
    • (2011) Nature , vol.478 , pp. 103-109
    • Ehret, G.B.1    Munroe, P.B.2    Rice, K.M.3
  • 3
    • 80053383403 scopus 로고    scopus 로고
    • Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
    • Wain LV, Verwoert GC, O'Reilly PF, et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 2011; 43:1005-1011.
    • (2011) Nat Genet , vol.43 , pp. 1005-1011
    • Wain, L.V.1    Verwoert, G.C.2    O'Reilly, P.F.3
  • 4
    • 67349085063 scopus 로고    scopus 로고
    • Genome-wide association study identifies eight loci associated with blood pressure
    • Newton-Cheh C, Johnson T, Gateva V, et al. Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 2009; 41:666-676.
    • (2009) Nat Genet , vol.41 , pp. 666-676
    • Newton-Cheh, C.1    Johnson, T.2    Gateva, V.3
  • 5
    • 67349208839 scopus 로고    scopus 로고
    • Genome-wide association study of blood pressure and hypertension
    • Levy D, Ehret GB, Rice K, et al. Genome-wide association study of blood pressure and hypertension. Nat Genet 2009; 41:677-687.
    • (2009) Nat Genet , vol.41 , pp. 677-687
    • Levy, D.1    Ehret, G.B.2    Rice, K.3
  • 6
    • 58549108489 scopus 로고    scopus 로고
    • From the cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene
    • Wang Y, O'Connell JR, McArdle PF, et al. From the cover: whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci USA 2009; 106:226-231.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 226-231
    • Wang, Y.1    O'Connell, J.R.2    McArdle, P.F.3
  • 7
    • 77955359609 scopus 로고    scopus 로고
    • Multigene kinase network kidney transport and salt in essential hypertension
    • Welling PA, Chang YP, Delpire E, et al. Multigene kinase network, kidney transport, and salt in essential hypertension. Kidney Int 2010; 77:1063-1069.
    • (2010) Kidney Int , vol.77 , pp. 1063-1069
    • Welling, P.A.1    Chang, Y.P.2    Delpire, E.3
  • 8
    • 84875072192 scopus 로고    scopus 로고
    • STK39 polymorphism is associated with essential hypertension: A systematic review and meta-analysis
    • A large meta-analysis confirms the significant association of STK39 (SPAK) polymorphism with susceptibility to hypertension, supporting a role of a multigene kinase network [7] and altered renal salt handling in essential hypertension.
    • A large meta-analysis confirms the significant association of STK39 (SPAK) polymorphism with susceptibility to hypertension, supporting a role of a multigene kinase network [7] and altered renal salt handling in essential hypertension.
    • (2013) PLoS One , vol.8
    • Xi, B.1    Chen, M.2    Chandak, G.R.3
  • 9
    • 65949107547 scopus 로고    scopus 로고
    • Common genetic variation and human traits
    • Goldstein DB. Common genetic variation and human traits. N Engl J Med 2009; 360:1696-1698.
    • (2009) N Engl J Med , vol.360 , pp. 1696-1698
    • Goldstein, D.B.1
  • 10
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1092 human genomes
    • This resource enables the analysis of common and low-frequency variants in individuals from diverse oulations
    • Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491:56-65. This resource enables the analysis of common and low-frequency variants in individuals from diverse populations.
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 11
    • 42649084334 scopus 로고    scopus 로고
    • Rare independent mutations in renal salt handling genes contribute to blood pressure variation
    • Ji W, Foo JN, O'Roak BJ, et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40:592-599.
    • (2008) Nat Genet , vol.40 , pp. 592-599
    • Ji, W.1    Foo, J.N.2    O'Roak, B.J.3
  • 12
    • 85027934863 scopus 로고    scopus 로고
    • Bartter-and Gitelman-like syndromes: Saltlosing tubulopathies with loop or DCT defects
    • Seyberth HW, Schlingmann KP. Bartter-and Gitelman-like syndromes: Saltlosing tubulopathies with loop or DCT defects. Pediatr Nephrol 2011; 26:1789-1802.
    • (2011) Pediatr Nephrol , vol.26 , pp. 1789-1802
    • Seyberth, H.W.1    Schlingmann, K.P.2
  • 13
    • 79951506090 scopus 로고    scopus 로고
    • K channel mutations in adrenal aldosteroneproducing adenomas and hereditary hypertension
    • Choi M, Scholl UI, Yue P, et al. K channel mutations in adrenal aldosteroneproducing adenomas and hereditary hypertension. Science 2011; 331:768-772.
    • (2011) Science , vol.331 , pp. 768-772
    • Choi, M.1    Scholl, U.I.2    Yue, P.3
  • 14
    • 78649947169 scopus 로고    scopus 로고
    • Hypertension resistance polymorphisms in ROMK (Kir1.1) alter channel function by different mechanisms
    • Fang L, Li D, Welling PA. Hypertension resistance polymorphisms in ROMK (Kir1.1) alter channel function by different mechanisms. Am J Physiol Renal Physiol 2010; 299:F1359-F1364.
    • (2010) Am J Physiol Renal Physiol , vol.299
    • Fang, L.1    Li, D.2    Welling, P.A.3
  • 15
    • 79954488893 scopus 로고    scopus 로고
    • Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function
    • Monette MY, Rinehart J, Lifton RP, et al. Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function. Am J Physiol Renal Physiol 2011; 300:F840-F847.
    • (2011) Am J Physiol Renal Physiol , vol.300
    • Monette, M.Y.1    Rinehart, J.2    Lifton, R.P.3
  • 16
    • 79951672418 scopus 로고    scopus 로고
    • Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters
    • Acuna R, Martinez-de-la-Maza L, Ponce-Coria J, et al. Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters. J Hypertens 2011; 29:475-483.
    • (2011) J Hypertens , vol.29 , pp. 475-483
    • Acuna, R.1    Martinez-De-La-Maza, L.2    Ponce-Coria, J.3
  • 17
    • 70349649788 scopus 로고    scopus 로고
    • A comprehensive guide to the ROMK potassium channel: Form and function in health and disease
    • Welling PA, Ho K. A comprehensive guide to the ROMK potassium channel: Form and function in health and disease. Am J Physiol Renal Physiol 2009; 297:F849-F863.
    • (2009) Am J Physiol Renal Physiol , vol.297
    • Welling, P.A.1    Ho, K.2
  • 18
    • 0037020096 scopus 로고    scopus 로고
    • Impaired renal NaCl absorption in mice lacking the ROMK potassium channel, a model for type II Bartter's syndrome
    • Lorenz JN, Baird NR, Judd LM, et al. Impaired renal NaCl absorption in mice lacking the ROMK potassium channel, a model for type II Bartter's syndrome. J Biol Chem 2002; 277:37871-37880.
    • (2002) J Biol Chem , vol.277 , pp. 37871-37880
    • Lorenz, J.N.1    Baird, N.R.2    Judd, L.M.3
  • 19
    • 84856629737 scopus 로고    scopus 로고
    • CFTR: Folding, misfolding and correcting the DeltaF508 conformational defect
    • Lukacs GL, Verkman AS. CFTR: Folding, misfolding and correcting the DeltaF508 conformational defect. Trends Mol Med 2012; 18:81-91.
    • (2012) Trends Mol Med , vol.18 , pp. 81-91
    • Lukacs, G.L.1    Verkman, A.S.2
  • 20
    • 84870907436 scopus 로고    scopus 로고
    • Cleaning up: ER-associated degradation to the rescue
    • Brodsky JL. Cleaning up: ER-associated degradation to the rescue. Cell 2012; 151:1163-1167.
    • (2012) Cell , vol.151 , pp. 1163-1167
    • Brodsky, J.L.1
  • 21
    • 79959668938 scopus 로고    scopus 로고
    • Golgi export of the Kir2.1 channel is driven by a trafficking signal located within its tertiary structure
    • Ma D, Taneja TK, Hagen BM, et al. Golgi export of the Kir2.1 channel is driven by a trafficking signal located within its tertiary structure. Cell 2011; 145:1102-1115.
    • (2011) Cell , vol.145 , pp. 1102-1115
    • Ma, D.1    Taneja, T.K.2    Hagen, B.M.3
  • 22
    • 0032546013 scopus 로고    scopus 로고
    • Direct activation of inward rectifier potassium channels by PIP2 and its stabilization by Gbetagamma
    • Huang CL, Feng S, Hilgemann DW. Direct activation of inward rectifier potassium channels by PIP2 and its stabilization by Gbetagamma. Nature 1998; 391:803-886.
    • (1998) Nature , vol.391 , pp. 803-886
    • Huang, C.L.1    Feng, S.2    Hilgemann, D.W.3
  • 23
    • 0037071897 scopus 로고    scopus 로고
    • Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies
    • Lopes CM, Zhang H, Rohacs T, et al. Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron 2002; 34:933-944.
    • (2002) Neuron , vol.34 , pp. 933-944
    • Lopes, C.M.1    Zhang, H.2    Rohacs, T.3
  • 24
    • 80053485088 scopus 로고    scopus 로고
    • Crystal structure of the mammalian GIRK2 K channel and gating regulation by G proteins, PIP2, and sodium
    • Whorton MR, MacKinnon R. Crystal structure of the mammalian GIRK2 K channel and gating regulation by G proteins, PIP2, and sodium. Cell 2011; 147:199-208.
    • (2011) Cell , vol.147 , pp. 199-208
    • Whorton, M.R.1    Mackinnon, R.2
  • 25
    • 80053131218 scopus 로고    scopus 로고
    • Structural basis of PIP2 activation of the classical inward rectifier K channel Kir2.2
    • Hansen SB, Tao X, MacKinnon R. Structural basis of PIP2 activation of the classical inward rectifier K channel Kir2.2. Nature 2011; 477:495-498.
    • (2011) Nature , vol.477 , pp. 495-498
    • Hansen, S.B.1    Tao, X.2    Mackinnon, R.3
  • 26
    • 84875943956 scopus 로고    scopus 로고
    • Physiology of SLC12 transporters: Lessons from inherited human genetic mutations and genetically engineered mouse knockouts
    • Gagnon KB, Delpire E. Physiology of SLC12 transporters: Lessons from inherited human genetic mutations and genetically engineered mouse knockouts. Am J Physiol Cell Physiol 2013; 304:C693-C714.
    • (2013) Am J Physiol Cell Physiol , vol.304
    • Gagnon, K.B.1    Delpire, E.2
  • 27
    • 67649200539 scopus 로고    scopus 로고
    • Structure and mechanism of an amino acid antiporter
    • Gao X, Lu F, Zhou L, et al. Structure and mechanism of an amino acid antiporter. Science 2009; 324:1565-1568.
    • (2009) Science , vol.324 , pp. 1565-1568
    • Gao, X.1    Lu, F.2    Zhou, L.3
  • 28
    • 34250785553 scopus 로고    scopus 로고
    • A single binding motif is required for SPAK activation of the Na-K-2Cl cotransporter
    • Gagnon KB, England R, Delpire E. A single binding motif is required for SPAK activation of the Na-K-2Cl cotransporter. Cell Physiol Biochem 2007; 20:131-142.
    • (2007) Cell Physiol Biochem , vol.20 , pp. 131-142
    • Gagnon, K.B.1    England, R.2    Delpire, E.3
  • 29
    • 64049117335 scopus 로고    scopus 로고
    • X-ray structure of the C-terminal domain of a prokaryotic cation-chloride cotransporter
    • Warmuth S, Zimmermann I, Dutzler R. X-ray structure of the C-terminal domain of a prokaryotic cation-chloride cotransporter. Structure 2009; 17:538-546.
    • (2009) Structure , vol.17 , pp. 538-546
    • Warmuth, S.1    Zimmermann, I.2    Dutzler, R.3
  • 30
    • 34548107626 scopus 로고    scopus 로고
    • Regions in the cytosolic C-terminus of the secretory Na()-K()-2Cl(-) cotransporter NKCC1 are required for its homodimerization
    • Parvin MN, Gerelsaikhan T, Turner RJ. Regions in the cytosolic C-terminus of the secretory Na()-K()-2Cl(-) cotransporter NKCC1 are required for its homodimerization. Biochemistry 2007; 46:9630-9637.
    • (2007) Biochemistry , vol.46 , pp. 9630-9637
    • Parvin, M.N.1    Gerelsaikhan, T.2    Turner, R.J.3
  • 31
    • 69249091331 scopus 로고    scopus 로고
    • A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2
    • Zaarour N, Demaretz S, Defontaine N, et al. A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2. J Biol Chem 2009; 284:21752-21764.
    • (2009) J Biol Chem , vol.284 , pp. 21752-21764
    • Zaarour, N.1    Demaretz, S.2    Defontaine, N.3
  • 33
    • 84855849454 scopus 로고    scopus 로고
    • Regulatory activation is accompanied by movement in the C terminus of the Na-K-Cl cotransporter (NKCC1)
    • This study rovidesthe first direct evidence that regulation of aSLC12familymember inves large movements of C-termini of a dimeric cotransorter roviding a model for understanding the conformational changes required for transort
    • Monette MY, Forbush B. Regulatory activation is accompanied by movement in the C terminus of the Na-K-Cl cotransporter (NKCC1). J Biol Chem 2012; 287:2210-2220. This study providesthe first direct evidence that regulation of aSLC12familymember involves large movements of C-termini of a dimeric cotransporter, providing a model for understanding the conformational changes required for transport.
    • (2012) J Biol Chem , vol.287 , pp. 2210-2220
    • Monette, M.Y.1    Forbush, B.2
  • 34
    • 77955607650 scopus 로고    scopus 로고
    • Peripheral protein quality control removes unfolded CFTR from the plasma membrane
    • Okiyoneda T, Barriere H, Bagdany M, et al. Peripheral protein quality control removes unfolded CFTR from the plasma membrane. Science 2010; 329:805-810.
    • (2010) Science , vol.329 , pp. 805-810
    • Okiyoneda, T.1    Barriere, H.2    Bagdany, M.3
  • 35
    • 46149116565 scopus 로고    scopus 로고
    • Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases
    • Ponce-Coria J, San-Cristobal P, Kahle KT, 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.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 8458-8463
    • Ponce-Coria, J.1    San-Cristobal, P.2    Kahle, K.T.3
  • 36
    • 76749095057 scopus 로고    scopus 로고
    • Mechanism of substrate recognition and transport by an amino acid antiporter
    • Gao X, Zhou L, Jiao X, et al. Mechanism of substrate recognition and transport by an amino acid antiporter. Nature 2010; 463:828-832.
    • (2010) Nature , vol.463 , pp. 828-832
    • Gao, X.1    Zhou, L.2    Jiao, X.3
  • 37
    • 83755181547 scopus 로고    scopus 로고
    • The thiazide-sensitive NaCl cotransporter is targeted for chaperone-dependent endoplasmic reticulum-associated degradation
    • Needham PG, Mikoluk K, Dhakarwal P, et al. The thiazide-sensitive NaCl cotransporter is targeted for chaperone-dependent endoplasmic reticulum-associated degradation. J Biol Chem 2011; 286:43611-43621.
    • (2011) J Biol Chem , vol.286 , pp. 43611-43621
    • Needham, P.G.1    Mikoluk, K.2    Dhakarwal, P.3
  • 38
    • 84877116653 scopus 로고    scopus 로고
    • Hsp70 and Hsp90 multichaperone complexes sequentially regulate thiazide-sensitive cotransporter endoplasmic reticulum-associated degradation and biogenesis
    • This study provides a new understanding of the mechanisms by which misfolded SLC transport molecules are targeted for degradation by ERAD
    • Donnelly BF, Needham PG, Snyder AC, et al. Hsp70 and Hsp90 multichaperone complexes sequentially regulate thiazide-sensitive cotransporter endoplasmic reticulum-associated degradation and biogenesis. J Biol Chem 2013; 288:13124-13135. This study provides a new understanding of the mechanisms by which misfolded SLC transport molecules are targeted for degradation by ERAD.
    • (2013) J Biol Chem , vol.288 , pp. 13124-13135
    • Donnelly, B.F.1    Needham, P.G.2    Snyder, A.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.