-
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.
Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas 75235-9063, USA.
The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of human hypertension thought to result from a deficiency of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD). 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 11 beta HSD 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.
PMID: 7670488 [PubMed - indexed for MEDLINE]
-
Cited by 14 PubMed Central articles
-
Positional identification of variants of Adamts16 linked to inherited hypertension.
Joe B, Saad Y, Lee NH, Frank BC, Achinike OH, Luu TV, Gopalakrishnan K, Toland EJ, Farms P, Yerga-Woolwine S, et al.
Hum Mol Genet. 2009 Aug 1; 18(15):2825-38. Epub 2009 May 7.
[Hum Mol Genet. 2009]
-
Genetically hypertensive Brown Norway congenic rat strains suggest intermediate traits underlying genetic hypertension.
Bilusić M, Moreno C, Barreto NE, Tschannen MR, Harris EL, Porteous WK, Thompson CM, Grigor MR, Weder A, Boerwinkle E, et al.
Croat Med J. 2008 Oct; 49(5):586-99.
[Croat Med J. 2008]
-
Polymorphism in NEDD4L is associated with increased salt sensitivity, reduced levels of P-renin and increased levels of Nt-proANP.
Dahlberg J, Nilsson LO, von Wowern F, Melander O.
PLoS One. 2007 May 9; 2(5):e432. Epub 2007 May 9.
[PLoS One. 2007]
- » See all...