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Clinical Characteristics of Somatic Mutations in Chinese Patients With Aldosterone-Producing Adenoma
Open accessAbstract
Recent studies have shown that somatic mutations in the KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes are associated with the pathogenesis of aldosterone-producing adenoma. Clinical profile and biochemical characteristics of the mutations in Chinese patients with aldosterone-producing adenoma remain unclear. In this study, we performed DNA sequencing in 168 Chinese patients with aldosterone-producing adenoma and found 129 somatic mutations in KCNJ5, 4 in ATP1A1, 1 in ATP2B3, and 1 in CACNA1D. KCNJ5 mutations were more prevalent in female patients and were associated with larger adenomas, higher aldosterone excretion, and lower minimal serum K(+) concentration. More interestingly, we identified a novel somatic KCNJ5 mutation (c.445-446insGAA, p.T148-T149insR) that could enhance CYP11B2 mRNA upregulation and aldosterone release. This mutation could also cause membrane depolarization and intercellular Ca(2+) increase. In conclusion, somatic KCNJ5 mutations are conspicuously more popular than mutations of other genes in aldosterone-producing adenomas of Chinese patients. The T148-T149insR mutation in KCNJ5 may influence K(+) channel selectivity and autonomous aldosterone production.
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“Mutations in KCNJ5 (potassium channel) have been documented in patients with aldosterone-producing adenomas in approximately 40% of patients (151) from European cohorts, though much higher rates are reported in patients from Japan and Asia (152,153).”
From Adrenal incidentaloma (2020) · cites this paper as [152]
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Metadata
- Authors
- Zheng, F.-F., Zhu, L.-M., Nie, A.-F., Li, X.-Y., Lin, J.-R., Zhang, K., Chen, J., Zhou, W.-L., Shen, Z.-J., Zhu, Y.-C., Wang, J.-G., Zhu, D.-L., & Gao, P.-J.
- Affiliations
- From the State Key Laboratory of Medical Genomics, Shanghai Key Laboratory of Hypertension and Department of Hypertension, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China (F.-F.Z., L.-M.Z., J.C., J.-G.W., D.-L.Z., P.-J.G.); Laboratory of Vascular Biology and Key Laboratory of Stem Cell Biology, Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China (F.-F.Z., J.-R.L., K.Z., P.-J.G.); Shanghai Institute...
- Shanghai Medical College of Fudan University (CN)
- Venue
- Hypertension
- Published
- 2015-03
- Volume
- 65
- Issue
- 3
- Pages
- 622-628
- ISSN
- 0194-911X (ISSN-L)
- 1524-4563
- OpenAlex
- W2116698088
- Cited by
- 151
- References
- 31
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 9 · 2023: 10 · 2022: 11 · 2021: 18 · 2020: 15 · 2019: 15 · 2018: 13 · 2017: 18 · 2016: 15 · 2015: 10
- FWCI
- 16.19
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Hypertension (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Natural Science Foundation of China
- Science and Technology Commission of Shanghai Municipality
- Shanghai Jiao Tong University
- Ruijin Hospital
- School of Medicine, Shanghai Jiao Tong University
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Keywords
- aldosterone-producing adenoma, somatic mutations, KCNJ5, ATP1A1, ATP2B3, CACNA1D, Chinese patients, aldosterone excretion, serum potassium, potassium channel selectivity, membrane depolarization, calcium signaling
- MeSH terms
- Sodium-Potassium-Exchanging ATPase, Adrenal Cortex Neoplasms, Adult, Aldosterone, Base Sequence, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Phenotype, Potassium, Retrospective Studies, Sex Factors, Prevalence, Adrenocortical Adenoma, Calcium Channels, L-Type, Asian People, Tumor Burden, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Plasma Membrane Calcium-Transporting ATPases
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