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Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase

Nature Genetics volume 10, pages 394–399 (1995)Cite this article

Abstract

The syndrome of apparent mineralocorticoid excess (ME) is an inherited form of human hypertension thought to result from a deficiency of 11β–hydroxysteroid dehydrogenase (11βHSD). This enzyme normally converts cortisol to inactive cortisone and is postulated to thus confer specificity for aldosterone upon the mineralocorticoid receptor. We have analysed the gene encoding the kidney isozyme of 11βHSD and found mutations on both alleles in nine of 11 AME patients (eight of nine kindreds). These mutations markedly affect enzymatic activity. They thus permit cortisol to occupy the renal mineralocorticoid receptor and thereby cause sodium retention and hypertension.

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Authors and Affiliations

  1. Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas, Texas, 75235-9063, USA

    Tomoatsu Mune, Fraser M. Rogerson, Heli Nikkilä, Anil K. Agarwal & Perrin C. White

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  1. Tomoatsu Mune
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Mune, T., Rogerson, F., Nikkilä, H. et al. Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase. Nat Genet 10, 394–399 (1995). https://doi.org/10.1038/ng0895-394

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