Defects in cortisol metabolism causing low-renin hypertension.
Deficiency of steroid 11 beta-hydroxylase, which is a mitochondrial cytochrome P450 required for cortisol and aldosterone synthesis, causes hypertension as well as virilization. In addition, abnormal regulation of this enzyme or a closely related isozyme may be involved in an autosomal dominant form of inherited hypertension, dexamethasone-suppressible hyperaldosteronism. An enzyme that catalyzes the interconversion of cortisol and cortisone, 11 beta-hydroxysteroid dehydrogenase, may be defective in an autosomal recessive form of hypertension termed apparent mineralocorticoid excess. The molecular bases of these forms of hypertension will be elucidated by identifying mutations in the 11 beta-hydroxylase and 11 beta-hydroxysteroid dehydrogenase genes and expressing normal and mutagenized enzymes in cultured cells.
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Division of Pediatric Endocrinology, Cornell University Medical College, New York, NY 10021.
D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D003577:Cytochrome P-450 Enzyme System / Q000032:analysis / Q000235:genetics / Q000378:metabolism; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism*; D006973:Hypertension / Q000378:metabolism*; D008969:Molecular Sequence Data; D012083:Renin / Q000378:metabolism*; D013252:Steroid 11-beta-Hydroxylase / Q000032:analysis / Q000235:genetics / Q000378:metabolism
D000596:Amino Acids; D003577:Cytochrome P-450 Enzyme System; D013252:Steroid 11-beta-Hydroxylase; D012083:Renin; D006854:Hydrocortisone