The genetics of ACTH resistance syndromes

被引：37

作者：

Metherell, Louise A.

Chan, Li F.

Clark, Adrian J. L.

机构：

[1] Centre for Endocrinology, William Harvey Research Institute, Queen Mary's School of Medicine and Dentistry at Barts and The London, London, EC1M 6BQ, Charterhouse Square

来源：

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM | 2006年 / 20卷 / 04期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

melanocortin; 2; receptor; ACTH resistance; melanocortin 2 receptor accessory protein; familial glucocorticoid deficiency;

D O I：

10.1016/j.beem.2006.09.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inherited adrenocorticotropin (ACTH) resistance diseases are rare and include triple A syndrome and familial glucocorticoid deficiency (FGD). These conditions show genetic heterogeneity, i.e., the identical clinical phenotype may result from defects in more than one gene. Clinically, FGD is characterized only by ACTH resistance, while the triple A syndrome exhibits a variety of additional clinical features. FGD is caused by mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) and the recently identified melanocortin 2 receptor accessory protein (MRAP) genes. In addition, linkage to a locus on chromosome 8 has been demonstrated. The identification of further genes in ACTH resistance syndromes may reveal novel aspects of MC2R signalling and trafficking. This review will summarize the clinical, biochemical and genetic aspects of these rare but informative diseases.

引用

页码：547 / 560

页数：14

共 45 条

[1] Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005 [J].

Brooks, BP ;

Kleta, R ;

Stuart, C ;

Tuchman, M ;

Jeong, A ;

Stergiopoulos, SG ;

Bei, T ;

Bjornson, B ;

Russell, L ;

Chanoine, JP ;

Tsagarakis, S ;

Kalsner, LR ;

Stratakis, CA .

CLINICAL GENETICS, 2005, 68 (03) :215-221

[2]

CHAN LF, 2006, NOVEL MUTATION MRAP, P6

[3] FAMILIAL GLUCOCORTICOID DEFICIENCY ASSOCIATED WITH POINT MUTATION IN THE ADRENOCORTICOTROPIN RECEPTOR [J].

CLARK, AJL ;

MCLOUGHLIN, L ;

GROSSMAN, A .

LANCET, 1993, 341 (8843) :461-462

[4] Tall stature in familial glucocorticoid deficiency [J].

Elias, LLK ;

Huebner, A ;

Metherell, LA ;

Canas, A ;

Warne, GL ;

Bitti, MLM ;

Cianfarani, S ;

Clayton, PE ;

Savage, MO ;

Clark, AJL .

CLINICAL ENDOCRINOLOGY, 2000, 53 (04) :423-430

[5] Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and gennotype [J].

Elias, LLK ;

Huebner, A ;

Pullinger, GD ;

Mirtella, A ;

Clark, AJL .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (08) :2766-2770

[6] Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity [J].

Génin, E ;

Huebner, A ;

Jaillard, C ;

Faure, A ;

Halaby, G ;

Saka, N ;

Clark, AJL ;

Durand, P ;

Bégeot, M ;

Naville, D .

HUMAN GENETICS, 2002, 111 (4-5) :428-434

[7] Targeting melanocortin receptors as potential novel therapeutics [J].

Getting, Stephen J. .

PHARMACOLOGY & THERAPEUTICS, 2006, 111 (01) :1-15

[8] Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene [J].

Handschug, K ;

Sperling, S ;

Yoon, SJK ;

Hennig, S ;

Clark, AJL ;

Huebner, A .

HUMAN MOLECULAR GENETICS, 2001, 10 (03) :283-290

[9] Clinical and genetic characterization of families with triple A (Allgrove) syndrome [J].

Houlden, H ;

Smith, S ;

de Carvalho, M ;

Blake, J ;

Mathias, C ;

Wood, NW ;

Reilly, MM .

BRAIN, 2002, 125 :2681-2690

[10] Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome [J].

Huebner, A ;

Mann, P ;

Rohde, E ;

Kaindl, AM ;

Witt, M ;

Verkade, P ;

Jakubiczka, S ;

Menschikowski, M ;

Stoltenburg-Didinger, G ;

Koehler, K .

MOLECULAR AND CELLULAR BIOLOGY, 2006, 26 (05) :1879-1887

← 1 2 3 4 5 →