The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome
Abstract
The extracellular Ca(2+)-sensing receptor (CaSR) plays an essential role in extracellular Ca(2+) homeostasis by regulating the rate of parathyroid hormone (PTH) secretion and the rate of calcium reabsorption by the kidney. Activation of the renal CaSR is thought to inhibit paracellular divalent cation reabsorption in the cortical ascending limb (cTAL) both directly and indirectly via a decrease in NaCl transport. However, in patients with autosomal dominant hypocalcemia (ADH), caused by CaSR gain-of-function mutations, a defect in tubular NaCl reabsorption with renal loss of NaCl has not been described so far. This article describes a patient with ADH due to a gain-of-function mutation in the CaSR, L125P, associated with a Bartter-like syndrome that is characterized by a decrease in distal tubular fractional chloride reabsorption rate and negative NaCl balance with secondary hyperaldosteronism and hypokalemia. The kinetics of activation of the L125P mutant receptor expressed in HEK-293 cells, assessed by measuring CaSR-stimulated changes in intracellular Ca(2+) and ERK activity, showed a dramatic reduction in the EC(50) for extracellular Ca(2+) compared with the wild-type and a loss-of-function mutant CaSR (I40F). This study describes the first case of ADH associated with a Bartter-like syndrome. It is herein proposed that the L125P mutation of the CaSR, which represents the most potent gain-of-function mutation reported so far, may reduce NaCl reabsorption in the cTAL sufficiently to result in renal loss of NaCl with secondary hyperaldosteronism and hypokalemia.
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Citations
Cites
Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid
Brown, E. M., Gamba, G., Riccardi, D., Lombardi, M., Butters, R., Kifor, O., Sun, A., Hediger, M. A., Lytton, J., & Hebert, S. C. (1993) · Nature · doi:10.1038/366575a0 · Cited by 2,643
Extracellular Calcium Sensing and Extracellular Calcium Signaling
Brown, E. M., & MacLeod, R. J. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.1.239 · Cited by 1,388
Pollak, M. R., Brown, E. M., Chou, Y.-H. W., Hebert, S. C., Marx, S. J., Stelnmann, B., Levi, T., Seidman, C. E., & Seidman, J. G. (1993) · Cell · doi:10.1016/0092-8674(93)90617-y · Cited by 1,043
Simon, D. B., Karet, F. E., Hamdan, J. M., Pietro, A. D., Sanjad, S. A., & Lifton, R. P. (1996) · Nature Genetics · doi:10.1038/ng0696-183 · Cited by 907
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
Simon, D. B., Bindra, R. S., Mansfield, T. A., Nelson-Williams, C., Mendonca, E., Stone, R., Schurman, S., Nayir, A., Alpay, H., Bakkaloglu, A., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-171 · Cited by 867
Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK
Simon, D. B., Karet, F. E., Rodriguez-Soriano, J., Hamdan, J. H., DiPietro, A., Trachtman, H., Sanjad, S. A., & Lifton, R. P. (1996) · Nature Genetics · doi:10.1038/ng1096-152 · Cited by 826
Gutkind, J. S. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.4.1839 · Cited by 812
Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation
Pollak, M. R., Brown, E. M., Estep, H. L., McLaine, P. N., Kifor, O., Park, J., Hebert, S. C., Seidman, C. E., & Seidman, J. G. (1994) · Nature Genetics · doi:10.1038/ng1194-303 · Cited by 598
Barttin is a Cl- channel β-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion
Estévez, R., Boettger, T., Stein, V., Birkenhäger, R., Otto, E., Hildebrandt, F., & Jentsch, T. J. (2001) · Nature · doi:10.1038/35107099 · Cited by 583
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
Birkenhäger, R., Otto, E., Schürmann, M. J., Vollmer, M., Ruf, E.-M., Maier-Lutz, I., Beekmann, F., Fekete, A., Omran, H., Feldmann, D., et al. (2001) · Nature Genetics · doi:10.1038/ng752 · Cited by 539
Self-citation
Cited by
Coe, F. L. (2005) · Journal of Clinical Investigation · doi:10.1172/jci26662 · Cited by 786
Salt Sensitivity of Blood Pressure: A Scientific Statement From the American Heart Association
Elijovich, F., Weinberger, M. H., Anderson, C. A. M., Appel, L. J., Bursztyn, M., Cook, N. R., Dart, R. A., Newton-Cheh, C. H., Sacks, F. M., & Laffer, C. L. (2016) · Hypertension · doi:10.1161/hyp.0000000000000047 · Cited by 482
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases
Hannan, F. M., Kallay, E., Chang, W., Brandi, M. L., & Thakker, R. V. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-018-0115-0 · Cited by 394
Rossier, B. C., Staub, O., & Hummler, E. (2013) · FEBS Letters · doi:10.1016/j.febslet.2013.05.013 · Cited by 73
Effects of parathyroid hormone on renal tubular calcium and phosphate handling
Alexander, R. T., & Dimke, H. (2023) · Acta Physiologica · doi:10.1111/apha.13959 · Cited by 62
Metadata
- Authors
- Vargas-Poussou, R., Huang, C., Hulin, P., Houillier, P., Jeunemai[Combining Circumflex Accent]tre, X., Paillard, M., Planelles, G., Déchaux, M., Miller, R. T., & Antignac, C.
- Venue
- Journal of the American Society of Nephrology
- Published
- 2002-09
- Volume
- 13
- Issue
- 9
- Pages
- 2259-2266
- ISSN
- 1046-6673 (ISSN-L)
- OpenAlex
- W2159907329
- Cited by
- 353
- References
- 29
- FWCI
- 8.30
- Type
- journal article
- Language
- en
- Open access
- closed
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- Vargas-Poussou, R., Huang, C., Hulin, P., Houillier, P., Jeunemai[Combining Circumflex Accent]tre, X., Paillard, M., Planelles, G., Déchaux, M., Miller, R. T., & Antignac, C. (2002). Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome. Journal of the American Society of Nephrology. https://doi.org/10.1097/01.asn.0000025781.16723.68
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
