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

550 Citations (Scopus)

Abstract

The syndrome of apparent mineralocorticoid excess (AME) 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
StatePublished - Aug 1995

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11-beta-Hydroxysteroid Dehydrogenases
Mineralocorticoid Receptors
Isoenzymes
Hydrocortisone
Apparent Mineralocorticoid Excess Syndrome
Hypertension
Kidney
Mutation
Cortisone
Aldosterone
Sodium
Alleles
Enzymes
Genes
Apparent mineralocorticoid excess

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase. / Mune, Tomoatsu; Rogerson, Fraser M.; Nikkilä, Heli; Agarwal, Anil K.; White, Perrin C.

In: Nature Genetics, Vol. 10, No. 4, 08.1995, p. 394-399.

Research output: Contribution to journalArticle

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