Variation in promoter function in CYP11B2 and regulation of aldosterone secretion in cardiovascular disease

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Blood pressure is controlled by a variety of mechanisms. Steroid hormones such as aldosterone, produced by the adrenal gland, are known to be important. Alterations in genes involved in the production of aldosterone may lead to high blood pressure. It is known that patients with high blood pressure have a variation in certain genes which control aldosterone synthesis but it is not clear exactly how this change produces the clinical picture of hypertension and increased risk of cardiovascular disease. This study aims to look more closely at specific changes in genes affecting aldosterone synthesis and relate these to increased production of the hormone. I will do this in a variety of ways including examining the effects in the laboratory environment at a molecular level, in human adrenal tissue (obtained from patients who have required to have their adrenal glands removed), and in patients with hypertension whose genes and clinical characteristics we can study.