Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess

PLoS ONE

Volumn 5, Issue 10, 2010, Pages

  Bouligand, Jérôme ^a,b,c   Delemer, Brigitte ^d   Hecart, Annie Claude ^d   Meduri, Geri ^a,b   Viengchareun, Say ^b,c   Amazit, Larbi ^b,c   Trabado, Séverine ^a,b,c   Féve, Bruno ^a,b,e   Guiochon Mantel, Anne ^a,b,c   Young, Jacques ^a,b,e   Lombés, Marc ^a,b,e  

^a BICÊTRE HOSPITAL   (France)

^b INSERM   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d SERVICE DE DERMATOLOGIE   (France)

^e Service d'Endocrinologie et Maladies de la Reproduction   (France)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 2; ARGININE; EMETINE; GLUCOCORTICOID; GLUCOCORTICOID RECEPTOR; HYDROCORTISONE; MINERALOCORTICOID; MINERALOCORTICOID RECEPTOR; TETRAHYDROCORTISOL; TETRAHYDROCORTISONE; MESSENGER RNA;

ADOLESCENT; ADRENAL HYPERPLASIA; ADULT; AGED; AMINO ACID SUBSTITUTION; APPARENT MINERALOCORTICOID EXCESS SYNDROME; ARTICLE; CASE REPORT; CHILD; DISEASE EXACERBATION; DNA BINDING; ENZYME ACTIVITY; FAMILY STUDY; FEMALE; FIBROBLAST; GENE CONTROL; GENE EXPRESSION; GENE INDUCTION; GENETIC DISORDER; HAPLOINSUFFICIENCY; HORMONE BINDING; HORMONE RESISTANCE; HORMONE SENSITIVITY; HORMONE URINE LEVEL; HUMAN; HYPERCORTISOLISM; HYPERTENSION; HYPOKALEMIA; IN VITRO STUDY; IN VIVO STUDY; MALE; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PHENOTYPE; PROTEIN MOTIF; RECEPTOR OCCUPANCY; SCHOOL CHILD; SIGNAL TRANSDUCTION; TRANSACTIVATION; ADRENAL DISEASE; GENETICS; HAPLOTYPE; HYPERPLASIA; METABOLISM; MIDDLE AGED; MUTATION; PEDIGREE;

ADOLESCENT; ADRENAL GLAND DISEASES; ADULT; AGED; CHILD; FEMALE; HAPLOTYPES; HUMANS; HYPERPLASIA; MALE; MIDDLE AGED; MINERALOCORTICOIDS; MUTATION; PEDIGREE; RECEPTORS, GLUCOCORTICOID; RNA, MESSENGER; SIGNAL TRANSDUCTION;

EID: 78149431206     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0013563     Document Type: Article

References (27)

1. Lu NZ, Wardell SE, Burnstein KL, Defranco D, Fuller PJ, et al. (2006) International Union of Pharmacology. LXV. The pharmacology and classifi- cation of the nuclear receptor superfamily: glucocorticoid, mineralocorticoid, progesterone, and androgen receptors. Pharmacol Rev 58: 782-797.
2. Lu NZ, Cidlowski JA (2004) The origin and functions of multiple human glucocorticoid receptor isoforms. Ann N Y Acad Sci 1024: 102-123.
3. Rhen T, Cidlowski JA (2005) Antiinflammatory action of glucocorticoids-new mechanisms for old drugs. N Engl J Med 353: 1711-1723.
4. Gross KL, Cidlowski JA (2008) Tissue-specific glucocorticoid action: a family affair. Trends Endocrinol Metab 19: 331-339.
5. Viengchareun S, Le Menuet D, Martinerie L, Munier M, Pascual-Le Tallec L, et al. (2007) The mineralocorticoid receptor: insights into its molecular and (patho)physiological biology. Nucl Recept Signal 5: e012.
6. Charmandari E, Kino T, Ichijo T, Chrousos GP (2008) Generalized Glucocorticoid Resistance: Clinical Aspects, Molecular Mechanisms and Implications of a Rare Genetic Disorder. J Clin Endocrinol Metab 93: 1563-1572.
7. McMahon SK, Pretorius CJ, Ungerer JP, Salmon NJ, Conwell LS, et al. (2010) Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1). J Clin Endocrinol Metab 95: 297-302.
8. Nader N, Bachrach BE, Hurt DE, Gajula S, Pittman A, et al. (2010) A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain. J Clin Endocrinol Metab 95: 2281-2285.
9. Gross KL, Lu NZ, Cidlowski JA (2009) Molecular mechanisms regulating glucocorticoid sensitivity and resistance. Mol Cell Endocrinol 300: 7-16.
10. Michailidou Z, Carter RN, Marshall E, Sutherland HG, Brownstein DG, et al. (2008) Glucocorticoid receptor haploinsufficiency causes hypertension and attenuates hypothalamic-pituitary-adrenal axis and blood pressure adaptions to high-fat diet. Faseb J 22: 3896-907.
11. Mansmann G, Lau J, Balk E, Rothberg M, Miyachi Y, et al. (2004) The clinically inapparent adrenal mass: update in diagnosis and management. Endocr Rev 25: 309-340.
12. Newell-Price J, Bertagna X, Grossman AB, Nieman LK (2006) Cushing's syndrome. Lancet 367: 1605-1617.
13. White PC, Mune T, Agarwal AK (1997) 11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev 18: 135-156.
14. Shyu AB, Wilkinson MF, van Hoof A (2008) Messenger RNA regulation: to translate or to degrade. Embo J 27: 471-481.
15. Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, et al. (2008) Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 118: 1519-1531.
16. Vermeer H, Hendriks-Stegeman BI, van der Burg B, van Buul-Offers SC, Jansen M (2003) Glucocorticoid-induced increase in lymphocytic FKBP51 messenger ribonucleic acid expression: a potential marker for glucocorticoid sensitivity, potency, and bioavailability. J Clin Endocrinol Metab 88: 277-284.
17. Stalder L, Muhlemann O (2008) The meaning of nonsense. Trends Cell Biol 18: 315-321.
18. Gummow BM, Scheys JO, Cancelli VR, Hammer GD (2006) Reciprocal regulation of a glucocorticoid receptor-steroidogenic factor-1 transcription complex on the Dax-1 promoter by glucocorticoids and adrenocorticotropic hormone in the adrenal cortex. Mol Endocrinol 20: 2711-2723.
19. Alikhani-Koupaei R, Fouladkou F, Fustier P, Cenni B, Sharma AM, et al. (2007) Identification of polymorphisms in the human 11beta-hydroxysteroid dehydro-genase type 2 gene promoter: functional characterization and relevance for salt sensitivity. Faseb J 21: 3618-3628.
20. Caprio M, Feve B, Claes A, Viengchareun S, Lombes M, et al. (2007) Pivotal role of the mineralocorticoid receptor in corticosteroid-induced adipogenesis. Faseb J 21: 2185-2194.
21. Karst H, Berger S, Turiault M, Tronche F, Schutz G, et al. (2005) Mineralocorticoid receptors are indispensable for nongenomic modulation of hippocampal glutamate transmission by corticosterone. Proc Natl Acad Sci U S A 102: 19204-19207.
22. Gesina E, Blondeau B, Milet A, Le Nin I, Duchene B, et al. (2006) Glucocorticoid signalling affects pancreatic development through both direct and indirect effects. Diabetologia 49: 2939-2947.
23. Watts LM, Manchem VP, Leedom TA, Rivard AL, McKay RA, et al. (2005) Reduction of hepatic and adipose tissue glucocorticoid receptor expression with antisense oligonucleotides improves hyperglycemia and hyperlipidemia in diabetic rodents without causing systemic glucocorticoid antagonism. Diabetes 54: 1846-1853.
24. Pitt B, Zannad F, Remme WJ, Cody R, Castaigne A, et al. (1999) The effect of spironolactone on morbidity and mortality in patients with severe heart failure. Randomized Aldactone Evaluation Study Investigators. N Engl J Med 341: 709-717.
25. Pitt B, Remme W, Zannad F, Neaton J, Martinez F, et al. (2003) Eplerenone, a selective aldosterone blocker, in patients with left ventricular dysfunction after myocardial infarction. N Engl J Med 348: 1309-1321.
26. Kamenicky P, Viengchareun S, Blanchard A, Meduri G, Zizzari P, et al. (2008) Epithelial sodium channel is a key mediator of growth hormone-induced sodium retention in acromegaly. Endocrinology 149: 3294-3305.
27. Pascual-Le Tallec L, Kirsh O, Lecomte MC, Viengchareun S, Zennaro MC, et al. (2003) PIAS1 interacts with the N-terminal domain of mineralocorticoid receptor and represses its transcriptional activity - Implication of SUMO-1 modification. Mol Endocrinol 17: 2529-2542.