| Title: |
Clinical Characteristics of Somatic Mutations in Chinese Patients With Aldosterone-Producing Adenoma |
| Authors: |
Zheng, Fang-Fang; Zhu, Li-Min; Nie, Ai-Fang; Li, Xiao-Ying; Lin, Jing-Rong; Zhang, Ke; Chen, Jing; Zhou, Wen-Long; Shen, Zhou-Jun; Zhu, Yi-Chun; Wang, Ji-Guang; Zhu, Ding-Liang; Gao, Ping-Jin |
| Source: |
Hypertension ; volume 65, issue 3, page 622-628 ; ISSN 0194-911X 1524-4563 |
| Publisher Information: |
Ovid Technologies (Wolters Kluwer Health) |
| Publication Year: |
2015 |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1161/hypertensionaha.114.03346 |
| DOI: |
10.1161/HYPERTENSIONAHA.114.03346 |
| Availability: |
https://doi.org/10.1161/hypertensionaha.114.03346; https://www.ahajournals.org/doi/full/10.1161/HYPERTENSIONAHA.114.03346 |
| Accession Number: |
edsbas.B6A5994C |
| Database: |
BASE |