Primary generalized glucocorticoid resistance and hypersensitivity: The end-organ involvement in the stress response

Science Signaling

Volumn 5, Issue 244, 2012, Pages

  Charmandari, Evangelia ^a,b  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b BIOMEDICAL RESEARCH FOUNDATION   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; DEXAMETHASONE; GLUCOCORTICOID; GLUCOCORTICOID RECEPTOR ALPHA; NUCLEAR RECEPTOR COACTIVATOR 2;

CELLULAR DISTRIBUTION; CHEMICAL STRUCTURE; CLINICAL FEATURE; CORTICOTROPIN RELEASE; DNA BINDING; GENE MUTATION; GENETIC DISORDER; HUMAN; HYDROCORTISONE RELEASE; HYPOTHALAMUS HYPOPHYSIS SYSTEM; NUCLEOCYTOPLASMIC TRANSPORT; PATHOPHYSIOLOGY; PRIMARY GENERALIZED GLUCOCORTICOID HYPERSENSITIVITY; PRIMARY GENERALIZED GLUCOCORTICOID RESISTANCE; PRIORITY JOURNAL; PROTEIN INTERACTION; RECEPTOR AFFINITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW; STRESS; URINARY EXCRETION;

AUDIOVISUAL AIDS; DRUG HYPERSENSITIVITY; DRUG RESISTANCE; GLUCOCORTICOIDS; HUMANS; HYPOTHALAMO-HYPOPHYSEAL SYSTEM; MUTATION; PITUITARY-ADRENAL SYSTEM; RECEPTORS, GLUCOCORTICOID; SIGNAL TRANSDUCTION; SYNDROME;

EID: 84867133612     PISSN: 19450877     EISSN: 19379145     Source Type: Journal    
DOI: 10.1126/scisignal.2003337     Document Type: Review

References (36)

1. T. Kino, G. P. Chrousos, in Handbook of Stress and the Brain, T. Steckler, N. H. Kalin, J. M. H. M. Reul, Eds. (Elsevier, Amsterdam, 2005), pp. 295-311.
2. G. P. Chrousos, E. Charmandari, T. Kino, Glucocorticoid action networks - An introduction to systems biology. J. Clin. Endocrinol. Metab. 89, 563-564 (2004).
3. G. P. Chrousos, The glucocorticoid receptor gene, longevity, and the complex disorders of Western societies. Am. J. Med. 117, 204-207 (2004).
4. J. Galon, D. Franchimont, N. Hiroi, G. Frey, A. Boettner, M. Ehrhart-Bornstein, J. J. O'Shea, G. P. Chrousos, S. R. Bornstein, Gene profiling reveals unknown enhancing and suppressive actions of glucocorticoids on immune cells. FASEB J. 16, 61-71 (2002).
5. J. Zhou, J. A. Cidlowski, The human glucocorticoid receptor: One gene, multiple proteins and diverse responses. Steroids 70, 407-417 (2005).
6. D. Duma, C. M. Jewell, J. A. Cidlowski, Multiple glucocorticoid receptor isoforms and mechanisms of post-translational modification. J. Steroid Biochem. Mol. Biol. 102, 11-21 (2006)).
7. N. C. Nicolaides, Z. Galata, T. Kino, G. P. Chrousos, E. Charmandari, The human glucocorticoid receptor: Molecular basis of biologic function. Steroids 75, 1-12 (2010).
8. T. Kino, I. Manoli, S. Kelkar, Y. Wang, Y. A. Su, G. P. Chrousos, Glucocorticoid receptor (GR) β has intrinsic, GRalpha-independent transcriptional activity. Biochem. Biophys. Res. Commun. 381, 671-675 (2009).
9. R. H. Oakley, C. M. Jewell, M. R. Yudt, D. M. Bofetiado, J. A. Cidlowski, The dominant negative activity of the human glucocorticoid receptor β isoform. Specificity and mechanisms of action. J. Biol. Chem. 274, 27857-27866 (1999).
10. G. P. Chrousos, T. Kino, Intracellular glucocorticoid signaling: A formerly simple system turns stochastic. Sci. STKE 2005, pe48 (2005).
11. N. J. McKenna, R. B. Lanz, B. W. O'Malley, Nuclear receptor coregulators: Cellular and molecular biology. Endocr. Rev. 20, 321-344 (1999).
12. N. J. McKenna, B. W. O'Malley, Combinatorial control of gene expression by nuclear receptors and coregulators. Cell 108, 465-474 (2002).
13. D. Auboeuf, A. Hönig, S. M. Berget, B. W. O'Malley, Coordinate regulation of transcription and splicing by steroid receptor coregulators. Science 298, 416-419 (2002).
14. G. P. Chrousos, Hormone Resistance and Hypersensitivity States, Modern Endocrinology Series, G. P. Chrousos, J. M. Olefsky, E. Samols, Eds. (Lippincott, Williams & Wilkins, Philadelphia, 2002), p. 542.
15. T. Kino, M. U. De Martino, E. Charmandari, M. Mirani, G. P. Chrousos, Tissue glucocorticoid resistance/hypersensitivity syndromes. J. Steroid Biochem. Mol. Biol. 85, 457-467 (2003).
16. G. P. Chrousos, T. Kino, Glucocorticoid signaling in the cell. Expanding clinical implications to complex human behavioral and somatic disorders. Ann. N.Y. Acad. Sci. 1179, 153-166 (2009).
17. G. P. Chrousos, A. Vingerhoeds, D. Brandon, C. Eil, M. Pugeat, M. DeVroede, D. L. Loriaux, M. B. Lipsett, Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease. J. Clin. Invest. 69, 1261-1269 (1982).
18. G. P. Chrousos, S. D. Detera-Wadleigh, M. Karl, Syndromes of glucocorticoid resistance. Ann. Intern. Med. 119, 1113-1124 (1993).
19. E. Charmandari, T. Kino, T. Ichijo, G. P. Chrousos, Generalized glucocorticoid resistance: Clinical aspects, molecular mechanisms, and implications of a rare genetic disorder. J. Clin. Endocrinol. Metab. 93, 1563-1572 (2008).
20. E. Charmandari, T. Kino, Chrousos syndrome: A seminal report, a phylogenetic enigma and the clinical implications of glucocorticoid signalling changes. Eur. J. Clin. Invest. 40, 932-942 (2010).
21. E. Charmandari, Primary generalized glucocorticoid resistance and hypersensitivity. Horm. Res. Paediatr. 76, 145-155 (2011).
22. E. Charmandari, T. Kino, E. Souvatzoglou, A. Vottero, N. Bhattacharyya, G. P. Chrousos, Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: Molecular genotype, genetic transmission, and clinical phenotype. J. Clin. Endocrinol. Metab. 89, 1939-1949 (2004).
23. E. Charmandari, A. Raji, T. Kino, T. Ichijo, A. Tiulpakov, K. Zachman, G. P. Chrousos, A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: The importance of the C terminus of hGR LBD in conferring transactivational activity. J. Clin. Endocrinol. Metab. 90, 3696-3705 (2005).
24. E. Charmandari, T. Kino, T. Ichijo, K. Zachman, A. Alatsatianos, G. P. Chrousos, Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance. J. Clin. Endocrinol. Metab. 91, 1535-1543 (2006).
25. E. Charmandari, T. Kino, T. Ichijo, W. Jubiz, L. Mejia, K. Zachman, G. P. Chrousos, A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance. J. Clin. Endocrinol. Metab. 92, 3986-3990 (2007).
26. E. Charmandari, T. Ichijo, W. Jubiz, S. Baid, K. Zachman, G. P. Chrousos, T. Kino, A novel point mutation in the amino terminal domain of the human glucocorticoid receptor (hGR) gene enhancing hGR-mediated gene expression. J. Clin. Endocrinol. Metab. 93, 4963-4968 (2008).
27. S. W. Lamberts, A. T. Huizenga, P. de Lange, F. H. de Jong, J. W. Koper, Clinical aspects of glucocorticoid sensitivity. Steroids 61, 157-160 (1996).
28. P. Smit, H. Russcher, F. H. de Jong, A. O. Brinkmann, S. W. Lamberts, J. W. Koper, Differential regulation of synthetic glucocorticoids on gene expression levels of glucocorticoid-induced leucine zipper and interleukin-2. J. Clin. Endocrinol. Metab. 90, 2994-3000 (2005).
29. E. F. van Rossum, S. W. Lamberts, Polymorphisms in the glucocorticoid receptor gene and their associations with metabolic parameters and body composition. Recent Prog. Horm. Res. 59, 333-357 (2004).
30. E. F. van Rossum, J. W. Koper, N. A. Huizenga, A. G. Uitterlinden, J. A. Janssen, A. O. Brinkmann, D. E. Grobbee, F. H. de Jong, C. M. van Duyn, H. A. Pols, S. W. Lamberts, A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels. Diabetes 51, 3128-3134 (2002).
31. E. F. van Rossum, R. A. Feelders, A. W. van den Beld, A. G. Uitterlinden, J. A. Janssen, W. Ester, A. O. Brinkmann, D. E. Grobbee, F. H. de Jong, H. A. Pols, J. W. Koper, S. W. Lamberts, Association of the ER22/23EK polymorphism in the glucocorticoid receptor gene with survival and C-reactive protein levels in elderly men. Am. J. Med. 117, 158-162 (2004).
32. R. C. Lin, X. L. Wang, B. Dalziel, I. D. Caterson, B. J. Morris, Association of obesity, but not diabetes or hypertension, with glucocorticoid receptor N363S variant. Obes. Res. 11, 802-808 (2003).
33. M. G. Dobson, C. P. Redfern, N. Unwin, J. U. Weaver, The N363S polymorphism of the glucocorticoid receptor: Potential contribution to central obesity in men and lack of association with other risk factors for coronary heart disease and diabetes mellitus. J. Clin. Endocrinol. Metab. 86, 2270-2274 (2001).
34. R. C. Lin, X. L. Wang, B. J. Morris, Association of coronary artery disease with glucocorticoid receptor N363S variant. Hypertension 41, 404-407 (2003).
35. R. Rosmond, Y. C. Chagnon, G. Holm, M. Chagnon, L. Pérusse, K. Lindell, B. Carlsson, C. Bouchard, P. Björntorp, A glucocorticoid receptor gene marker is associated with abdominal obesity, leptin, and dysregulation of the hypothalamic-pituitary-adrenal axis. Obes. Res. 8, 211-218 (2000).
36. J. U. Weaver, G. A. Hitman, P. G. Kopelman, An association between a Bc1I restriction fragment length polymorphism of the glucocorticoid receptor locus and hyperinsulinaemia in obese women. J. Mol. Endocrinol. 9, 295-300 (1992).