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

@article{Mune1995HumanHC,
  title={Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase},
  author={Tomoatsu Mune and Fraser M. Rogerson and Heli Nikkil{\"a} and Anil kumar Agarwal and Perrin C White},
  journal={Nature Genetics},
  year={1995},
  volume={10},
  pages={394-399}
}
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… CONTINUE READING

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