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

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

Research output: Contribution to journalArticle

558 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)394-399
Number of pages6
JournalNature genetics
Volume10
Issue number4
DOIs
StatePublished - Aug 1995

ASJC Scopus subject areas

  • Genetics

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