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Altered corticosteroid biosynthesis in essential hypertension: A digenic phenomenon
Eleanor Davies1, Scott M Mackenzie, E Marie Freel
1MRC Blood Pressure Group, BHF Glasgow Cardiovascular Research Centre, University of Glasgow, 126 University Place, Glasgow G12 8TA, United Kingdom. ed18g@clinmed.gla.ac.uk
Molecular and Cellular Endocrinology
|October 14, 2008
Summary
Aldosterone levels, linked to genetics and birth weight, are associated with hypertension. Polymorphisms in CYP11B2 and CYP11B1 genes may cause increased aldosterone production, leading to high blood pressure.
Area of Science:
- Endocrinology
- Genetics
- Cardiovascular Medicine
Background:
- Aldosterone is crucial for electrolyte balance and blood pressure regulation.
- Essential hypertension is a complex condition with multifactorial causes.
- Previous research suggests a genetic component in aldosterone regulation.
Purpose of the Study:
- To investigate the role of aldosterone in essential hypertension.
- To explore the heritability of plasma aldosterone and aldosterone-to-renin ratio (ARR).
- To examine the association between aldosterone levels, genetic variations, and hypertension.
Main Methods:
- Analysis of plasma aldosterone and ARR.
- Correlation studies with birth weight and blood pressure.
- Investigation of polymorphic variations in CYP11B2 and CYP11B1 genes.
Main Results:
- Plasma aldosterone and ARR are heritable traits.
- Lower birth weight and higher blood pressure correlate with increased aldosterone levels in older subjects.
- CYP11B2 gene polymorphisms are linked to aldosterone synthase activity and also affect 11beta-hydroxylase activity (encoded by CYP11B1).
Conclusions:
- A proposed digenic effect involving CYP11B2 and CYP11B1 contributes to increased aldosterone production.
- This mechanism, involving elevated ACTH drive and enhanced CYP11B2 expression, may lead to chronically raised aldosterone secretion.
- This condition, termed relative aldosterone excess, is implicated in the development of hypertension over time in susceptible individuals.
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