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Activating Mutation of the Renal Epithelial Chloride Channel ClC-Kb Predisposing to Hypertension

The chloride channel ClC-Kb is expressed in the basolateral cell membrane of the distal nephron and participates in renal NaCl reabsorption. Loss-of-function mutations of ClC-Kb lead to classic Bartter syndrome, a rare salt-wasting disorder. Recently, we identified the ClC-Kb polymorphism, which con... Full description

Journal Title: Hypertension 2004-06-01, Vol.43 (6), p.1175-1181
Main Author: Jeck, Nikola
Other Authors: Waldegger, Siegfried , Lampert, Angelika , Boehmer, Christoph , Waldegger, Petra , Lang, Philipp A , Wissinger, Bernd , Friedrich, Bjorn , Risler, Teut , Moehle, Robert , Lang, Undine E , Zill, Peter , Bondy, Brigitta , Schaeffeler, Elke , Asante-Poku, Stephen , Seyberth, Hannsjorg , Schwab, Matthias , Lang, Florian
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: Philadelphia, PA: Am Heart Assoc
ID: ISSN: 0194-911X
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title: Activating Mutation of the Renal Epithelial Chloride Channel ClC-Kb Predisposing to Hypertension
format: Article
creator:
  • Jeck, Nikola
  • Waldegger, Siegfried
  • Lampert, Angelika
  • Boehmer, Christoph
  • Waldegger, Petra
  • Lang, Philipp A
  • Wissinger, Bernd
  • Friedrich, Bjorn
  • Risler, Teut
  • Moehle, Robert
  • Lang, Undine E
  • Zill, Peter
  • Bondy, Brigitta
  • Schaeffeler, Elke
  • Asante-Poku, Stephen
  • Seyberth, Hannsjorg
  • Schwab, Matthias
  • Lang, Florian
subjects:
  • Adult
  • African Continental Ancestry Group - genetics
  • Amino Acid Substitution
  • Animals
  • Anion Transport Proteins - genetics
  • Anion Transport Proteins - metabolism
  • Arterial hypertension. Arterial hypotension
  • Biological and medical sciences
  • Blood and lymphatic vessels
  • Cardiology. Vascular system
  • Chloride Channels - genetics
  • Chloride Channels - metabolism
  • Chlorides - metabolism
  • Clinical manifestations. Epidemiology. Investigative techniques. Etiology
  • DNA Mutational Analysis
  • European Continental Ancestry Group - genetics
  • Female
  • Fundamental and applied biological sciences. Psychology
  • Genetic Predisposition to Disease
  • Germany
  • Ghana
  • Humans
  • Hypertension - genetics
  • Ion Transport - genetics
  • Male
  • Medical sciences
  • Membrane Proteins - genetics
  • Membrane Proteins - metabolism
  • Mutation, Missense
  • Natriuresis - genetics
  • Nephrons - metabolism
  • Oocytes
  • Patch-Clamp Techniques
  • Point Mutation
  • Potassium - metabolism
  • RNA, Complementary - genetics
  • Sodium - metabolism
  • Vertebrates: urinary system
  • Xenopus laevis
ispartof: Hypertension, 2004-06-01, Vol.43 (6), p.1175-1181
description: The chloride channel ClC-Kb is expressed in the basolateral cell membrane of the distal nephron and participates in renal NaCl reabsorption. Loss-of-function mutations of ClC-Kb lead to classic Bartter syndrome, a rare salt-wasting disorder. Recently, we identified the ClC-Kb polymorphism, which confers a strong gain-of-function effect on the ClC-Kb chloride channel. The present study has been performed to explore the prevalence of the mutation and its functional significance in renal salt handling and blood pressure regulation. As evident from electrophysiological analysis with the 2-electrode voltage-clamp technique, heterologous expression of ClC-Kb in Xenopus oocytes gave rise to a current that was 7-fold larger than the current produced by wild-type ClC-Kb. The prevalence of the mutant allele was significantly higher in an African population from Ghana (22%) than in whites (12%). As tested in 1 white population, carriers of ClC-Kb were associated with significantly higher systolic (by ≈6.0 mm Hg) and diastolic (by ≈4.2 mm Hg) blood pressures and significantly higher prevalence (45% versus 25%) of hypertensive (≥140/90 mm Hg) blood pressure levels. Individuals carrying ClC-Kb had significantly higher plasma Na concentrations and significantly decreased glomerular filtration rate. In conclusion, the mutation ClC-Kb of the renal epithelial Cl channel ClC-Kb strongly activates ClC-Kb chloride channel function in vitro and may predispose to the development of essential hypertension in vivo.
language: eng
source:
identifier: ISSN: 0194-911X
fulltext: no_fulltext
issn:
  • 0194-911X
  • 1524-4563
url: Link


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titleActivating Mutation of the Renal Epithelial Chloride Channel ClC-Kb Predisposing to Hypertension
creatorJeck, Nikola ; Waldegger, Siegfried ; Lampert, Angelika ; Boehmer, Christoph ; Waldegger, Petra ; Lang, Philipp A ; Wissinger, Bernd ; Friedrich, Bjorn ; Risler, Teut ; Moehle, Robert ; Lang, Undine E ; Zill, Peter ; Bondy, Brigitta ; Schaeffeler, Elke ; Asante-Poku, Stephen ; Seyberth, Hannsjorg ; Schwab, Matthias ; Lang, Florian
creatorcontribJeck, Nikola ; Waldegger, Siegfried ; Lampert, Angelika ; Boehmer, Christoph ; Waldegger, Petra ; Lang, Philipp A ; Wissinger, Bernd ; Friedrich, Bjorn ; Risler, Teut ; Moehle, Robert ; Lang, Undine E ; Zill, Peter ; Bondy, Brigitta ; Schaeffeler, Elke ; Asante-Poku, Stephen ; Seyberth, Hannsjorg ; Schwab, Matthias ; Lang, Florian
descriptionThe chloride channel ClC-Kb is expressed in the basolateral cell membrane of the distal nephron and participates in renal NaCl reabsorption. Loss-of-function mutations of ClC-Kb lead to classic Bartter syndrome, a rare salt-wasting disorder. Recently, we identified the ClC-Kb polymorphism, which confers a strong gain-of-function effect on the ClC-Kb chloride channel. The present study has been performed to explore the prevalence of the mutation and its functional significance in renal salt handling and blood pressure regulation. As evident from electrophysiological analysis with the 2-electrode voltage-clamp technique, heterologous expression of ClC-Kb in Xenopus oocytes gave rise to a current that was 7-fold larger than the current produced by wild-type ClC-Kb. The prevalence of the mutant allele was significantly higher in an African population from Ghana (22%) than in whites (12%). As tested in 1 white population, carriers of ClC-Kb were associated with significantly higher systolic (by ≈6.0 mm Hg) and diastolic (by ≈4.2 mm Hg) blood pressures and significantly higher prevalence (45% versus 25%) of hypertensive (≥140/90 mm Hg) blood pressure levels. Individuals carrying ClC-Kb had significantly higher plasma Na concentrations and significantly decreased glomerular filtration rate. In conclusion, the mutation ClC-Kb of the renal epithelial Cl channel ClC-Kb strongly activates ClC-Kb chloride channel function in vitro and may predispose to the development of essential hypertension in vivo.
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languageeng
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subjectAdult ; African Continental Ancestry Group - genetics ; Amino Acid Substitution ; Animals ; Anion Transport Proteins - genetics ; Anion Transport Proteins - metabolism ; Arterial hypertension. Arterial hypotension ; Biological and medical sciences ; Blood and lymphatic vessels ; Cardiology. Vascular system ; Chloride Channels - genetics ; Chloride Channels - metabolism ; Chlorides - metabolism ; Clinical manifestations. Epidemiology. Investigative techniques. Etiology ; DNA Mutational Analysis ; European Continental Ancestry Group - genetics ; Female ; Fundamental and applied biological sciences. Psychology ; Genetic Predisposition to Disease ; Germany ; Ghana ; Humans ; Hypertension - genetics ; Ion Transport - genetics ; Male ; Medical sciences ; Membrane Proteins - genetics ; Membrane Proteins - metabolism ; Mutation, Missense ; Natriuresis - genetics ; Nephrons - metabolism ; Oocytes ; Patch-Clamp Techniques ; Point Mutation ; Potassium - metabolism ; RNA, Complementary - genetics ; Sodium - metabolism ; Vertebrates: urinary system ; Xenopus laevis
ispartofHypertension, 2004-06-01, Vol.43 (6), p.1175-1181
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0Jeck, Nikola
1Waldegger, Siegfried
2Lampert, Angelika
3Boehmer, Christoph
4Waldegger, Petra
5Lang, Philipp A
6Wissinger, Bernd
7Friedrich, Bjorn
8Risler, Teut
9Moehle, Robert
10Lang, Undine E
11Zill, Peter
12Bondy, Brigitta
13Schaeffeler, Elke
14Asante-Poku, Stephen
15Seyberth, Hannsjorg
16Schwab, Matthias
17Lang, Florian
title
0Activating Mutation of the Renal Epithelial Chloride Channel ClC-Kb Predisposing to Hypertension
1Hypertension
addtitleHypertension
descriptionThe chloride channel ClC-Kb is expressed in the basolateral cell membrane of the distal nephron and participates in renal NaCl reabsorption. Loss-of-function mutations of ClC-Kb lead to classic Bartter syndrome, a rare salt-wasting disorder. Recently, we identified the ClC-Kb polymorphism, which confers a strong gain-of-function effect on the ClC-Kb chloride channel. The present study has been performed to explore the prevalence of the mutation and its functional significance in renal salt handling and blood pressure regulation. As evident from electrophysiological analysis with the 2-electrode voltage-clamp technique, heterologous expression of ClC-Kb in Xenopus oocytes gave rise to a current that was 7-fold larger than the current produced by wild-type ClC-Kb. The prevalence of the mutant allele was significantly higher in an African population from Ghana (22%) than in whites (12%). As tested in 1 white population, carriers of ClC-Kb were associated with significantly higher systolic (by ≈6.0 mm Hg) and diastolic (by ≈4.2 mm Hg) blood pressures and significantly higher prevalence (45% versus 25%) of hypertensive (≥140/90 mm Hg) blood pressure levels. Individuals carrying ClC-Kb had significantly higher plasma Na concentrations and significantly decreased glomerular filtration rate. In conclusion, the mutation ClC-Kb of the renal epithelial Cl channel ClC-Kb strongly activates ClC-Kb chloride channel function in vitro and may predispose to the development of essential hypertension in vivo.
subject
0Adult
1African Continental Ancestry Group - genetics
2Amino Acid Substitution
3Animals
4Anion Transport Proteins - genetics
5Anion Transport Proteins - metabolism
6Arterial hypertension. Arterial hypotension
7Biological and medical sciences
8Blood and lymphatic vessels
9Cardiology. Vascular system
10Chloride Channels - genetics
11Chloride Channels - metabolism
12Chlorides - metabolism
13Clinical manifestations. Epidemiology. Investigative techniques. Etiology
14DNA Mutational Analysis
15European Continental Ancestry Group - genetics
16Female
17Fundamental and applied biological sciences. Psychology
18Genetic Predisposition to Disease
19Germany
20Ghana
21Humans
22Hypertension - genetics
23Ion Transport - genetics
24Male
25Medical sciences
26Membrane Proteins - genetics
27Membrane Proteins - metabolism
28Mutation, Missense
29Natriuresis - genetics
30Nephrons - metabolism
31Oocytes
32Patch-Clamp Techniques
33Point Mutation
34Potassium - metabolism
35RNA, Complementary - genetics
36Sodium - metabolism
37Vertebrates: urinary system
38Xenopus laevis
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6Wissinger, Bernd
7Friedrich, Bjorn
8Risler, Teut
9Moehle, Robert
10Lang, Undine E
11Zill, Peter
12Bondy, Brigitta
13Schaeffeler, Elke
14Asante-Poku, Stephen
15Seyberth, Hannsjorg
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titleActivating Mutation of the Renal Epithelial Chloride Channel ClC-Kb Predisposing to Hypertension
authorJeck, Nikola ; Waldegger, Siegfried ; Lampert, Angelika ; Boehmer, Christoph ; Waldegger, Petra ; Lang, Philipp A ; Wissinger, Bernd ; Friedrich, Bjorn ; Risler, Teut ; Moehle, Robert ; Lang, Undine E ; Zill, Peter ; Bondy, Brigitta ; Schaeffeler, Elke ; Asante-Poku, Stephen ; Seyberth, Hannsjorg ; Schwab, Matthias ; Lang, Florian
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1African Continental Ancestry Group - genetics
2Amino Acid Substitution
3Animals
4Anion Transport Proteins - genetics
5Anion Transport Proteins - metabolism
6Arterial hypertension. Arterial hypotension
7Biological and medical sciences
8Blood and lymphatic vessels
9Cardiology. Vascular system
10Chloride Channels - genetics
11Chloride Channels - metabolism
12Chlorides - metabolism
13Clinical manifestations. Epidemiology. Investigative techniques. Etiology
14DNA Mutational Analysis
15European Continental Ancestry Group - genetics
16Female
17Fundamental and applied biological sciences. Psychology
18Genetic Predisposition to Disease
19Germany
20Ghana
21Humans
22Hypertension - genetics
23Ion Transport - genetics
24Male
25Medical sciences
26Membrane Proteins - genetics
27Membrane Proteins - metabolism
28Mutation, Missense
29Natriuresis - genetics
30Nephrons - metabolism
31Oocytes
32Patch-Clamp Techniques
33Point Mutation
34Potassium - metabolism
35RNA, Complementary - genetics
36Sodium - metabolism
37Vertebrates: urinary system
38Xenopus laevis
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8Risler, Teut
9Moehle, Robert
10Lang, Undine E
11Zill, Peter
12Bondy, Brigitta
13Schaeffeler, Elke
14Asante-Poku, Stephen
15Seyberth, Hannsjorg
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17Lang, Florian
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date2004-06-01
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volume43
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abstractThe chloride channel ClC-Kb is expressed in the basolateral cell membrane of the distal nephron and participates in renal NaCl reabsorption. Loss-of-function mutations of ClC-Kb lead to classic Bartter syndrome, a rare salt-wasting disorder. Recently, we identified the ClC-Kb polymorphism, which confers a strong gain-of-function effect on the ClC-Kb chloride channel. The present study has been performed to explore the prevalence of the mutation and its functional significance in renal salt handling and blood pressure regulation. As evident from electrophysiological analysis with the 2-electrode voltage-clamp technique, heterologous expression of ClC-Kb in Xenopus oocytes gave rise to a current that was 7-fold larger than the current produced by wild-type ClC-Kb. The prevalence of the mutant allele was significantly higher in an African population from Ghana (22%) than in whites (12%). As tested in 1 white population, carriers of ClC-Kb were associated with significantly higher systolic (by ≈6.0 mm Hg) and diastolic (by ≈4.2 mm Hg) blood pressures and significantly higher prevalence (45% versus 25%) of hypertensive (≥140/90 mm Hg) blood pressure levels. Individuals carrying ClC-Kb had significantly higher plasma Na concentrations and significantly decreased glomerular filtration rate. In conclusion, the mutation ClC-Kb of the renal epithelial Cl channel ClC-Kb strongly activates ClC-Kb chloride channel function in vitro and may predispose to the development of essential hypertension in vivo.
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0Philadelphia, PA
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pubAm Heart Assoc
pmid15148291
doi10.1161/01.HYP.0000129824.12959.f0
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