The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5
Open accessAbstract
We recently implicated two recurrent somatic mutations in an adrenal potassium channel, KCNJ5, as a cause of aldosterone-producing adrenal adenomas (APAs) and one inherited KCNJ5 mutation in a Mendelian form of early severe hypertension with massive adrenal hyperplasia. The mutations identified all altered the channel selectivity filter, producing increased Na + conductance and membrane depolarization, the signal for aldosterone production and proliferation of adrenal glomerulosa cells. We report herein members of four kindreds with early onset primary aldosteronism of unknown cause. Sequencing of KCNJ5 revealed that affected members of two kindreds had KCNJ5 G151R mutations, identical to one of the prevalent recurrent mutations in APAs. These individuals had severe progressive aldosteronism and hyperplasia requiring bilateral adrenalectomy in childhood for blood pressure control. Affected members of the other two kindreds had KCNJ5 G151E mutations, which are not seen in APAs. These subjects had easily controlled hypertension and no evidence of hyperplasia. Surprisingly, electrophysiology of channels expressed in 293T cells demonstrated that KCNJ5 G151E was the more extreme mutation, producing a much larger Na + conductance than KCNJ5 G151R , resulting in rapid Na + -dependent cell lethality. We infer that this increased lethality limits adrenocortical cell mass and the severity of aldosteronism in vivo, accounting for the milder phenotype among these patients. These findings demonstrate striking variations in phenotypes and clinical outcome resulting from different mutations of the same amino acid in KCNJ5 and have implications for the diagnosis and pathogenesis of primary aldosteronism with and without adrenal hyperplasia.
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Self-citationA prospective study of the prevalence of primary aldosteronism in 1,125 hypertensive patients
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Self-citationK + Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
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Cited by
Flynn, J. T., Kaelber, D. C., Baker-Smith, C. M., Blowey, D., Carroll, A. E., Daniels, S. R., de Ferranti, S. D., Dionne, J. M., Falkner, B., Flinn, S. K., et al. (2017) · Pediatrics · doi:10.1542/peds.2017-1904 · Cited by 3,651
Funder, J. W., Carey, R. M., Mantero, F., Murad, M. H., Reincke, M., Shibata, H., Stowasser, M., & Young, W. F. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-4061 · Cited by 2,925
Hypertension: Renin–Angiotensin–Aldosterone System Alterations
te Riet, L., van Esch, J. H. M., Roks, A. J. M., van den Meiracker, A. H., & Danser, A. H. J. (2015) · Circulation Research · doi:10.1161/circresaha.116.303587 · Cited by 706
Scholl, U. I., Goh, G., Stölting, G., de Oliveira, R. C., Choi, M., Overton, J. D., Fonseca, A. L., Korah, R., Starker, L. F., Kunstman, J. W., et al. (2013) · Nature Genetics · doi:10.1038/ng.2695 · Cited by 627
Self-citationDiagnosis and treatment of primary aldosteronism: practical clinical perspectives
Young, W. F. (2019) · Journal of Internal Medicine · doi:10.1111/joim.12831 · Cited by 325
Metadata
- Authors
- Scholl, U. I., Nelson-Williams, C., Yue, P., Grekin, R., Wyatt, R. J., Dillon, M. J., Couch, R., Hammer, L. K., Harley, F. L., Farhi, A., Wang, W.-H., & Lifton, R. P.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2012-01-30
- Volume
- 109
- Issue
- 7
- Pages
- 2533-2538
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1991449126
- Cited by
- 259
- References
- 21
- FWCI
- 22.78
- Type
- journal article
- Language
- en
- Open access
- green
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- Scholl, U. I., Nelson-Williams, C., Yue, P., Grekin, R., Wyatt, R. J., Dillon, M. J., Couch, R., Hammer, L. K., Harley, F. L., Farhi, A., Wang, W.-H., & Lifton, R. P. (2012). Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1121407109
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