Aldosterone synthase disorder due to the mutations on CYP11B2 gene

Abstract

Aldosterone deficiency is a rarely recessive trait disorder caused by mutations on the CYP11B2 gene. Aldosterone is a important hormone which possesses roles in regulating, maintaining salt, water and excreting potassium out of human body. Therefore, the lack of aldosterone leads to series of abnormals in clinical and bichemical manifestation, the most dangerous case may threaten patients’ lives. In adrenal steroid hormone biosynthesis pathway, aldosterone synthase (CYP11B2) is a enzyme which catalyzes in aldosterone production. Thus, mutations in the CYP11B2 gene impair enzyme activivy, resulting in aldosterone decreases compare with normal conversion. Nowadays, main diagnosis method to detect the CYP11B2 gene mutations is entirely gene senquencing combining with site-directed mutagenesis, in vitro, protein expression on animal cells and analyzing on protein 3-D crystal structure to identify/predict mutation effects on CYP11B2 activity.

Here, we review the basics of steroid metabolism in the adrenal cortex, especially aldosterone biosynthesis. Summarized research in Vietnam and the worldwide, clinical biochemistry, gene encoding of CYP11B2 and CYP11B2 structure are also introduced.