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Defects in cortisol metabolism causing low-renin hypertension
1Division of Pediatric Endocrinology, Cornell University Medical College, New York, NY 10021.
Endocrine Research
|January 1, 1991
Summary
Steroid 11 beta-hydroxylase deficiency causes hypertension and virilization. Studying mutations in steroid 11 beta-hydroxylase and 11 beta-hydroxysteroid dehydrogenase genes will clarify inherited hypertension forms.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Steroid 11 beta-hydroxylase (a mitochondrial cytochrome P450) is crucial for cortisol and aldosterone synthesis.
- Deficiency in this enzyme leads to hypertension and virilization.
- Related enzymes are implicated in inherited hypertension, including dexamethasone-suppressible hyperaldosteronism and apparent mineralocorticoid excess.
Purpose of the Study:
- To elucidate the molecular bases of inherited hypertension linked to steroid 11 beta-hydroxylase and 11 beta-hydroxysteroid dehydrogenase.
- To identify specific gene mutations responsible for these conditions.
- To understand the functional impact of these mutations by expressing normal and altered enzymes.
Main Methods:
- Gene mutation identification in patients with specific hypertension forms.
- Expression of normal and mutated 11 beta-hydroxylase and 11 beta-hydroxysteroid dehydrogenase enzymes in cultured cells.
- Biochemical and functional analysis of expressed enzymes.
Main Results:
- (Results will be generated after experimental data is available)
- (Results will be generated after experimental data is available)
- (Results will be generated after experimental data is available)
Conclusions:
- Identifying mutations in steroid 11 beta-hydroxylase and 11 beta-hydroxysteroid dehydrogenase genes is key to understanding inherited hypertension.
- Functional studies of expressed enzymes will reveal the molecular mechanisms underlying these disorders.
- This research will provide insights into the pathophysiology of cortisol and aldosterone synthesis defects.
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