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Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension
Open accessAbstract
Primary aldosteronism is the most prevalent form of secondary hypertension. To explore molecular mechanisms of autonomous aldosterone secretion, we performed exome sequencing of aldosterone-producing adenomas (APAs). We identified somatic hotspot mutations in the ATP1A1 (encoding an Na(+)/K(+) ATPase α subunit) and ATP2B3 (encoding a Ca(2+) ATPase) genes in three and two of the nine APAs, respectively. These ATPases are expressed in adrenal cells and control sodium, potassium and calcium ion homeostasis. Functional in vitro studies of ATP1A1 mutants showed loss of pump activity and strongly reduced affinity for potassium. Electrophysiological ex vivo studies on primary adrenal adenoma cells provided further evidence for inappropriate depolarization of cells with ATPase alterations. In a collection of 308 APAs, we found 16 (5.2%) somatic mutations in ATP1A1 and 5 (1.6%) in ATP2B3. Mutation-positive cases showed male dominance, increased plasma aldosterone concentrations and lower potassium concentrations compared with mutation-negative cases. In summary, dominant somatic alterations in two members of the ATPase gene family result in autonomous aldosterone secretion.
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“In aldosterone-producing adenomas that did not have KCNJ5 mutations, abnormalities in ATP1A1 (encoding a Na+/K+ ATPase α subunit) were found in 5.2% and of ATP2B3 (encoding a Ca2+ ATPase) in 1.6%, with these mutations associated with increased plasma aldosterone concentrations and lower potassium concentrations than cases without the mutation (156).”
From Adrenal incidentaloma (2020) · cites this paper as [156]
In the citing paper
“Similarly, somatic driver mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 have been discovered in APA tissue, altogether accounting for most cases (157, 158, 161–164).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [163]
Citations
Cites
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
The International Consortium for Blood Pressure Genome-Wide Association Studies (2011) · Nature · doi:10.1038/nature10405 · Cited by 2,033
A prospective study of the prevalence of primary aldosteronism in 1,125 hypertensive patients
Rossi, G. P., Bernini, G., Caliumi, C., Desideri, G., Fabris, B., Ferri, C., Ganzaroli, C., Giacchetti, G., Letizia, C., Maccario, M., et al. (2006) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2006.07.059 · Cited by 1,467
Kaplan, J. H. (2002) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.71.102201.141218 · Cited by 1,181
K + Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Choi, M., Scholl, U. I., Yue, P., Björklund, P., Zhao, B., Nelson-Williams, C. J., Ji, W., Cho, Y., Patel, A. P., Men, C. J., et al. (2011) · Science · doi:10.1126/science.1198785 · Cited by 999
Crystal structure of the sodium–potassium pump
Morth, J. P., Pedersen, B. P., Toustrup-Jensen, M. S., Sørensen, T. L.-M., Petersen, J., Andersen, J. P., Vilsen, B., & Nissen, P. (2007) · Nature · doi:10.1038/nature06419 · Cited by 954
Control of aldosterone secretion: a model for convergence in cellular signaling pathways
SPÄT, A., & HUNYADY, L. (2004) · Physiological Reviews · doi:10.1152/physrev.00030.2003 · Cited by 494
Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice
Street, V. A., McKee-Johnson, J. W., Fonseca, R. C., Tempel, B. L., & Noben‐Trauth, K. (1998) · Nature Genetics · doi:10.1038/1284 · Cited by 283
Prevalence, Clinical, and Molecular Correlates of KCNJ5 Mutations in Primary Aldosteronism
Boulkroun, S., Beuschlein, F., Rossi, G.-P., Golib-Dzib, J.-F., Fischer, E., Amar, L., Mulatero, P., Samson-Couterie, B., Hahner, S., Quinkler, M., et al. (2012) · Hypertension · doi:10.1161/hypertensionaha.111.186478 · Cited by 278
Low-renin status in therapy-resistant hypertension: a clue to efficient treatment
Eide, I. K., Torjesen, P. A., Drolsum, A., Babovic, A., & Lilledahl, N. P. (2004) · Journal of Hypertension · doi:10.1097/00004872-200411000-00026 · Cited by 265
The plasma membrane Ca2+ ATPase of animal cells: Structure, function and regulation
Leva, F. D., Domi, T., Fedrizzi, L., Lim, D., & Carafoli, E. (2008) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2008.02.026 · Cited by 262
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Seidel, E., & Scholl, U. I. (2016) · Frontiers in Endocrinology · doi:10.3389/fendo.2016.00075 · Cited by 14
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Transcription controls growth, cell kinetics and cholesterol supply to sustain ACTH responses
Menzies, R. I., Zhao, X., Mullins, L. J., Mullins, J. J., Cairns, C., Wrobel, N., Dunbar, D. R., Bailey, M. A., & Kenyon, C. J. (2017) · Endocrine Connections · doi:10.1530/ec-17-0092 · Cited by 15
Aldosterone-Producing Adenomas
Hellman, P., Björklund, P., & Åkerström, T. (2019) · Vitamins and hormones · doi:10.1016/bs.vh.2018.10.007 · Cited by 13
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Wannachalee, T., & Turcu, A. F. (2020) · Hormone and Metabolic Research · doi:10.1055/a-1141-3526 · Cited by 13
Ito, A., Yamazaki, Y., Sasano, H., Matsubara, D., Fukushima, N., Tamba‐Sakaguchi, M., Tabata, K., Ashizawa, K., Takei, A., Koizumi, M., et al. (2017) · Pathology International · doi:10.1111/pin.12521 · Cited by 13
Wrenn, S. M., Vaidya, A., & Lubitz, C. C. (2020) · Gland Surgery · doi:10.21037/gs.2019.10.23 · Cited by 12
Caroccia, B., Lenzini, L., Ceolotto, G., Gioco, F., Benetti, A., Giannella, A., Ajjour, H., Galuppini, F., Pennelli, G., Seccia, T. M., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae411 · Cited by 12
Targeting cholesterol-dependent adrenal steroidogenesis for management of primary aldosteronism
Wu, H., He, H., Tong, H. A. N., Tian, X. Y., & Zhu, Z. (2025) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2024.12.001 · Cited by 12
Chan, C., Yang, W., Lin, Y., Chang, C., Wu, V., & Chueh, S. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf007 · Cited by 11
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Sherman, S. K., & Howe, J. R. (2013) · Surgical Oncology Clinics of North America · doi:10.1016/j.soc.2013.06.012 · Cited by 12
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Stowasser, M. (2014) · Current Hypertension Reports · doi:10.1007/s11906-014-0439-7 · Cited by 12
William F. Young (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00016-2 · Cited by 11
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Li, X., Wang, B., Tang, L., Zhang, Y., Chen, L., Gu, L., Zhang, F., Ouyang, J., & Zhang, X. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-00950 · Cited by 12
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Overview of aldosterone-related genetic syndromes and recent advances
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Molecular genetics of Conn adenomas in the era of exome analysis
Zein, R. M. E., Boulkroun, S., Fernandes-Rosa, F. L., & Zennaro, M. (2018) · La Presse Médicale · doi:10.1016/j.lpm.2018.07.006 · Cited by 11
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Tetti, M., Castellano, I., Veneziano, F., Magnino, C., Veglio, F., Mulatero, P., & Monticone, S. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19061675 · Cited by 11
Hattangady, N. G., Foster, J., Lerário, A. M., Ponce‐Balbuena, D., Rege, J., Monticone, S., Rainey, W. E., Mulatero, P., & Else, T. (2020) · Hormones and Cancer · doi:10.1007/s12672-019-00375-0 · Cited by 11
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Gao, X., Yamazaki, Y., Tezuka, Y., Omata, K., Ono, Y., Morimoto, R., Nakamura, Y., Satoh, F., & Sasano, H. (2021) · Endocrinology and Metabolism · doi:10.3803/enm.2021.101 · Cited by 10
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Shimada, H., Yamazaki, Y., Sugawara, A., Sasano, H., & Nakamura, Y. (2021) · Biomedicines · doi:10.3390/biomedicines9080892 · Cited by 9
Peng, K., Liao, H., Chueh, S., Pan, C., Lin, Y., Chen, Y., Chen, P.-Y., Huang, C., & Wu, V. (2021) · Biomedicines · doi:10.3390/biomedicines9081026 · Cited by 9
Chang, Y., Pan, C., Chen, Z., Tsai, C., Peng, S., Chang, C., Lee, B., Liao, C., Peng, K., Chiu, Y., et al. (2021) · Cancers · doi:10.3390/cancers13174313 · Cited by 9
Kong, L., Jin, Z., Dong, L., Xu, J., Gao, P., Wang, J., & Zhu, L. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.728595 · Cited by 9
Lee, B., Kang, V. J.-W., Pan, C., Huang, J.-Z., Lin, Y., Chang, Y., Tsai, C., Chou, C., Chen, Z., Liao, C., et al. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.830130 · Cited by 9
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Zhang, Z., Sugiura, Y., Mune, T., Nishiyama, M., Terada, Y., Mukai, K., & Nishimoto, K. (2019) · Current Opinion in Nephrology & Hypertension · doi:10.1097/mnh.0000000000000487 · Cited by 9
Mohideen, S. K., Mustangin, M., Kamaruddin, N. A., Muhammad, R., Jamal, A. R. A., Sukor, N., Tan, G. C., & Azizan, E. A. B. A. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00666 · Cited by 10
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Shimada, H., Hata, S., Yamazaki, Y., Otsubo, Y., Sato, I., Ise, K., Yokoyama, A., Suzuki, T., Sasano, H., Sugawara, A., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232112803 · Cited by 7
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(2013) · Circulation · doi:10.1161/cir.0b013e31829ab2fb · Cited by 6
Ito, R., Morita, M., Nakano, T., Sato, I., Yokoyama, A., & Sugawara, A. (2020) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2020.11.020 · Cited by 7
Kishimoto, S., Oki, K., Maruhashi, T., Kajikawa, M., Mizobuchi, A., Harada, T., Yamaji, T., Hashimoto, Y., Yoshimura, K., Nakano, Y., et al. (2023) · Hypertension Research · doi:10.1038/s41440-023-01375-y · Cited by 7
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Sun, Z., Jing, C., Tetti, M., Gong, S., Wei, J., Pang, Y., Reincke, M., & Williams, T. A. (2026) · Advanced Science · doi:10.1002/advs.202505410 · Cited by 6
Kirschner, L. S., & Stratakis, C. A. (2015) · Hormones and Cancer · doi:10.1007/s12672-015-0246-x · Cited by 6
Bao, M., Li, H., & Li, J. (2022) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.17586 · Cited by 6
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Salle, S. P., Corbeil, G., Haffaf, Z. E., Duranceau, C., Latour, M., Karakiewicz, P. I., Lacroix, A., & Bourdeau, I. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac564 · Cited by 6
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Lopez, A.-G., Duparc, C., Renouf, S., D’Agostino, M., Sousa, K. D., Amar, L., Defortescu, G., Manceau, G., Sabourin, J., Fernandes-Rosa, F. L., et al. (2026) · Journal of the American Heart Association · doi:10.1161/jaha.125.045539 · Cited by 5
Fedlaoui, B., Cosentino, T., Sayed, Z. R. A., Coelho, R. A., Giscos-Douriez, I., Faedda, N., Fayad, M., Hulot, J., Magnus, C. J., Sternson, S. M., et al. (2025) · Hypertension · doi:10.1161/hypertensionaha.124.23295 · Cited by 5
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Metadata
- Authors
- Beuschlein, F., Boulkroun, S., Osswald, A., Wieland, T., Nielsen, H. N., Lichtenauer, U. D., Penton, D., Schack, V. R., Amar, L., Fischer, E., Walther, A., Tauber, P., Schwarzmayr, T., Diener, S., Graf, E., Allolio, B., Samson-Couterie, B., Benecke, A., Quinkler, M., Fallo, F., Plouin, P.-F., Mantero, F., Meitinger, T., Mulatero, P., Jeunemaitre, X., Warth, R., Vilsen, B., Zennaro, M.-C., Strom, T. M., & Reincke, M.
- Affiliations
- LMU Klinikum (DE)
- Inserm (FR)
- Ludwig-Maximilians-Universität München (DE)
- Helmholtz Munich (DE)
- Aarhus University (DK)
- University of Regensburg (DE)
- Universitätsklinikum Würzburg (DE)
- Centre National de la Recherche Scientifique (FR)
- Charité – Universitätsmedizin Berlin (DE)
- University of Padua (IT)
- University of Turin (IT)
- Corresponding author
- Beuschlein, Felix
- ORCID
- Venue
- Nature Genetics
- Published
- 2013-02-17
- Volume
- 45
- Issue
- 4
- Pages
- 440-444
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2008821347
- Cited by
- 577
- References
- 22
- Citations by year
- 2026: 33 · 2025: 29 · 2024: 21 · 2023: 34 · 2022: 38 · 2021: 47 · 2020: 34 · 2019: 50 · 2018: 40 · 2017: 55 · 2016: 54 · 2015: 60 · 2014: 47 · 2013: 31
- FWCI
- 50.44
- Type
- journal article
- Language
- en
- Open access
- green
- zenodo.org
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- University of Regensburg Publication Server (University of Regensburg) (submittedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Site cant be reached (submittedVersion)
- Padua Research Archive (University of Padova) (submittedVersion)
- Zenodo (CERN European Organization for Nuclear Research) (submittedVersion, other-oa)
- Funders
- Lundbeckfonden (R118-2012-11726)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Renin-Angiotensin System Studies
- Keywords
- aldosterone-producing adenoma, ATP1A1, ATP2B3, somatic mutations, secondary hypertension, primary aldosteronism, Na+/K+-ATPase, Ca2+-ATPase, KCNJ5, ion homeostasis, adrenal adenoma, plasma aldosterone, hypokalemia
- MeSH terms
- Sodium-Potassium-Exchanging ATPase, Adrenal Cortex Neoplasms, Aldosterone, Calcium, Cells, Cultured, Electrophysiology, Humans, Hypertension, Immunoenzyme Techniques, Mutation, Potassium, Sodium, Adrenocortical Adenoma, Plasma Membrane Calcium-Transporting ATPases
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