... usually results from aldosterone synthase deficiency. Patients present with manifestations of mineralocorticoid deficiency during the first weeks of life. The largest numbers of cases have been described in Iranian Jews, who carried concomitantly two homozygous missense mutations (R181W and V386A...

...-Hydroxysteroiddehydrogenase Aldosterone synthase The enzyme 11β-hydroxysteroid dehydrogenase (11β-HSD) converts cortisol to its inactive metabolite cortisone (in rodents, corticosterone and 11-dehydrocorticosterone) [ 1 ]. If the enzyme is defective, cortisol or corticosterone will occupy the mineralocorticoid (type...

.... Alcohol Hypertension 11β-Hydroxysteroid dehydrogenase Aldosterone synthase The enzyme 11β-hydroxysteroid dehydrogenase (11β-HSD) converts cortisol to its inactive metabolite cortisone (in rodents, corticosterone and 11-dehydrocorticosterone) [ 1 ]. If the enzyme is defective, cortisol...

...-hydroxylase (P450c11), is expressed on high levels in the zona fasciculata and is regulated by ACTH. CYP11B2, the gene encoding aldosterone synthase (P450c11Aldo), is expressed in the zona glomerulosa under primary control of the renin-angiotensin system. Aldosterone synthase has 11β-hydroxylase activity...

...-actin in each group counted as relative mRNA expression levels. Glycyrrhizin Hypertension 11β-Hydroxysteroid dehydrogenase Aldosterone synthase The enzyme 11β-hydroxysteroid dehydrogenase (11β-HSD) converts cortisol to its inactive metabolite cortisone (in rodents, corticosterone and 11...

... analysis of the CYP11B2 gene which encodes aldosterone synthase (P450c11Aldo), the enzyme required for the terminal steps in aldosterone biosynthesis, revealed a hitherto undescribed homozygous deletion of codon 173. CYP11B2 is polymorphic at this position, encoding arginine or lysine. Both parents were...