ABSTRACT
Despite intensive investigation of the physiology of blood pressure regulation, the primary abnormalities contributing to the pathogenesis of this common disorder remain unknown in the overwhelming majority of patients. An alternative approach to pure physiologic analysis would be to identify mutations contributing to the pathogenesis of hypertension. Since such genetic abnormalities cannot be simply a consequence of hypertension, their identification should provide a useful starting point from which to elucidate pathophysiology. Aldosterone synthase is normally expressed only in the adrenal glomerulosa, where it catalyzes the final two steps in the biosynthesis of aldosterone from corticosterone. Genetic approaches to hypertension remain in their infancy. Only a few loci have been carefully studied in hypertensive subjects; even within the renin-angiotensin system, linkage studies with the angiotensin and angiotensin II receptor genes have not as yet been performed. No inference regarding populations of different ethnic and racial backgrounds can be made.
