Familial glucocorticoid deficiency: New genes and mechanisms

被引：53

作者：

Meimaridou, Eirini ^{[1
]}

Hughes, Claire R. ^{[1
]}

Kowalczyk, Julia ^{[1
]}

Guasti, Leonardo ^{[1
]}

Chapple, J. Paul ^{[1
]}

King, Peter J. ^{[1
]}

Chan, Li F. ^{[1
]}

Clark, Adrian J. L. ^{[1
]}

Metherell, Louise A. ^{[1
]}

机构：

[1] Queen Mary Univ London, Ctr Endocrinol, William Harvey Res Inst, Barts & London Sch Med & Dent, London, England

来源：

MOLECULAR AND CELLULAR ENDOCRINOLOGY | 2013年 / 371卷 / 1-2期

基金：

英国医学研究理事会;

关键词：

Adrenal insufficiency; Oxidative stress; Reactive oxygen species; Familial glucocorticoid deficiency; LIPOID ADRENAL-HYPERPLASIA; RECEPTOR ACCESSORY PROTEIN; ACUTE-REGULATORY-PROTEIN; ADRENOCORTICOTROPIN RECEPTOR; ACTH RECEPTOR; MUTATIONS; TYPE-2; TRAFFICKING; POPULATION; VARIANTS;

D O I：

10.1016/j.mce.2012.12.010

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Familial Glucocorticoid deficiency (FGD), in which the adrenal cortex fails to produce glucocorticoids, was first shown to be caused by defects in the receptor for ACTH (MC2R) or its accessory protein (MRAP). Certain mutations in the steroidogenic acute regulatory protein (STAR) can also masquerade as FGD. Recently mutations in mini chromosome maintenance-deficient 4 homologue (MCM4) and nicotinamide nucleotide transhydrogenase (NNT), genes involved in DNA replication and antioxidant defence respectively, have been recognised in FGD cohorts. These latest findings expand the spectrum of pathogenetic mechanisms causing adrenal disease and imply that the adrenal may be hypersensitive to replicative and oxidative stresses. Over time patients with MCM4 or NNT mutations may develop other organ pathologies related to their impaired gene functions and will therefore need careful monitoring. (c) 2012 Elsevier Ireland Ltd. All rights reserved.

引用

页码：195 / 200

页数：6

共 32 条

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