Article
Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.
Hypertension research : official journal of the Japanese Society of Hypertension - 1 Apr 2006
Kamide Kei, Kokubo Yoshihiro, Hanada Hironori, Nagura Junko, Yang Jin, Takiuchi Shin, Tanaka Chihiro, Banno Mariko, Miwa Yoshikazu, Yoshii Masayoshi, Matayoshi Tetsutaro, Yasuda Hisayo, Horio Takeshi, Okayama Akira, Tomoike Hitonobu, Kawano Yuhei, Miyata Toshiyuki
Abstract excerpt
Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. Here, we have studied whether genetic...
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