Role of genetic variation in regulation of aldosterone biosynthesis

Alvarez-Madrazo, S., Connell, J.M. and Freel, E.M. (2011) Role of genetic variation in regulation of aldosterone biosynthesis. Endocrine Development, 20, pp. 106-115. [Book Review]

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Aldosterone biosynthesis is not only altered in rare mendelian disorders. Recent evidence suggests that common polymorphisms in the genes mediating the final stages of aldosterone and cortisol production (CYP11B1 and CYP11B2 respectively) are also associated with milder alterations in adrenal corticosteroid biosynthesis. These abnormalities consist of a decrease in adrenal 11β- hydroxylase activity and a subtle, life-long excess of aldosterone secretion which may lead to long-term cardiovascular risks. An interaction between the CYP11B1 and CYP11B2 genes may exist but is yet to be elucidated. This article describes the studies which highlight the importance of adrenal steroid synthesis in the development of hypertension and cardiovascular dysfunction as well as the role of common polymorphisms in adrenal synthetic genes in altering corticosteroid biosynthesis.

Item Type:Book Reviews
Glasgow Author(s) Enlighten ID:Freel, Dr Marie and Alvarez-Madrazo, Dr Samantha
Authors: Alvarez-Madrazo, S., Connell, J.M., and Freel, E.M.
College/School:College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health
Journal Name:Endocrine Development
ISSN (Online):1662-2979
Published Online:16 December 2010
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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
392521Regulation of aldosterone and cortisol synthesis in hypertension and cardiovascular diseaseEleanor DaviesMedical Research Council (MRC)G0400874Institute of Cardiovascular and Medical Sciences
496251Translational studies on the role of corticosteroids in cardiovascular diseaseMarie FreelMedical Research Council (MRC)G0802803Institute of Cardiovascular and Medical Sciences