Aldosterone Synthase Gene (CYP11B2) Polymorphisms and Enhanced Cardiovascular Risk

Abstract

Aldosterone, the principal human mineralocorticoid, acts mainly for sodium reabsorption with potassium and hydrogen excretion. The adrenal cortex is the main site of aldosterone synthesis; however, extra-adrenal tissues such as the nervous, the cardiovascular, and the adipose tissues may be involved. Therefore, its action is mediated via endocrine as well as paracrine or autocrine mode. Aldosterone receptors are distributed extensively in the renal distal nephron and other sites, such as the heart, brain, vessels, and liver. The aldosterone synthase catalyzes the conversion of deoxycorticosterone finally to aldosterone. CYP11B2 gene occupies human chromosome 8q21-22 with nine exons and eight introns. Alteration of aldosterone synthase gene that is attributable to genetic polymorphisms can affect its transcription leading to several cardiovascular disorders such as essential hypertension, myocardial infarction, cardiomyopathies, and atrial fibrillations. Accordingly, it is important to illustrate these polymorphisms and the mechanisms by which they alter the aldosterone synthase gene and produce cardiovascular dysfunctions.