Absence of D147E mutation of CYP11B2 gene in hypertensive patients with increased corticosterone and aldosterone production

Objective: 11 beta -Hydroxylase and aldosterone synthase are two highly hom ologous genes involved in different forms of human hypertension and in diff erent animal models of hypertension. It has been shown that the conservativ e substitution D147E in the human CYP11B2 gene results in an increased prod uction of corticosterone and aldosterone in vitro. A gene conversion betwee n the CYP11B1 and CYP11B2 genes could be responsible for such a substitutio n. Methods: In this study we investigated the presence of the mutation D147E o f CYP11B2 in a group of 128 patients with primary aldosteronism. 68 patient s with essential hypertension and increased corticosterone production and i n 48 normal volunteers. Results and conclusions: We did not identify any patient carrying this muta tion, indicating that if it exists it is very rare and so has no relevance in determining the increased steroid excretion seen in some subtypes of hum an hypertension.