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Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess.

Abstract：

:The 11 beta-hydroxysteroid dehydrogenase type II enzyme (11 beta HSD2) converts cortisol into mineralocorticoid receptor inactive cortisone, thus preventing occupation of the non-selective mineralocorticoid receptor by glucocorticoids in the kidney. Mutations generating inactive enzymes have been described in the HSD11B2 gene in the congenital syndrome of apparent mineralocorticoid excess (AME), although proof of mutant protein synthesis was not provided. In the present study we have examined the metabolism of cortisol in mammalian cells transfected with plasmids expressing the wild type and mutant enzymes from three additional families of patients with mutations in the HSD11B2 gene. These studies revealed that the mutants were enzymatically inactive in intact mammalian cells expressing significant levels of both full length and truncated proteins. This is the first study to definitively show that point mutations in the HSD11B2 gene abolish 11 beta HSD2 enzymatic activity in the syndrome of AME.

journal_name

Mol Cell Endocrinol

journal_title

Molecular and cellular endocrinology

authors

Ferrari P,Obeyesekere VR,Li K,Wilson RC,New MI,Funder JW,Krozowski ZS

doi

10.1016/0303-7207(96)03787-2

subject

Has Abstract

pub_date

1996-05-17 00:00:00

pages

21-4

issue

1

eissn

0303-7207

issn

1872-8057

pii

0303720796037872

journal_volume

119

pub_type

杂志文章

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