A novel somatic mutation 145-147delETEinsK in KCNJ5 increases aldosterone production

作者:Zheng, F-F; Zhu, L-M; Zhou, W-L; Zhang, Y.; Li, M-Y; Zhu, Y-C; Wang, J-G; Zhu, D-L; Gao, P-J*
来源:Journal of Human Hypertension, 2017, 31(11): 756-759.
DOI:10.1038/jhh.2017.50

摘要

A novel KCNJ5 mutation (145 - 147delETEinsK) was detected in a female patient with aldosterone-producing adenoma. The mutation resulted in increased aldosterone production in the absence or presence of angiotensin II. Loss of K+ selectivity, increased Na+ conductance, membrane depolarization and Ca2+ influx were involved in the process.