Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes

European Journal of Endocrinology

Volumn 161, Issue 1, 2009, Pages 153-161

  Bimpaki, Eirini I ^a   Nestrova, Maria ^a   Stratakis, Constantine A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CORTICOTROPIN; CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE; CYCLIC AMP DEPENDENT PROTEIN KINASE REGULATORY SUBUNIT IALPHA; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; HYDROCORTISONE; PHOSPHODIESTERASE; PHOSPHODIESTERASE 11A; PHOSPHODIESTERASE 8B; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG; CREBBP PROTEIN, HUMAN; CYCLIC AMP PHOSPHODIESTERASE; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; GNAS PROTEIN, HUMAN; PDE11A PROTEIN, HUMAN; PDE8B PROTEIN, HUMAN; PRKAR1A PROTEIN, HUMAN;

ADOLESCENT; ADRENAL CORTEX ADENOMA; ADULT; ARTICLE; BINDING AFFINITY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CUSHING DISEASE; ENZYME ACTIVITY; FEMALE; GENE LOCUS; GENE LOSS; GENE MUTATION; GENETIC EPIGENESIS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SIGNAL TRANSDUCTION; WESTERN BLOTTING; ADENOMA; ADRENAL CORTEX TUMOR; CUSHING SYNDROME; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PHYSIOLOGY;

3',5'-CYCLIC-AMP PHOSPHODIESTERASES; ADENOMA; ADOLESCENT; ADRENAL CORTEX NEOPLASMS; ADRENOCORTICOTROPIC HORMONE; ADULT; CHILD; CHILD, PRESCHOOL; CREB-BINDING PROTEIN; CUSHING SYNDROME; CYCLIC AMP; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; CYCLIC AMP-DEPENDENT PROTEIN KINASES; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; HYDROCORTISONE; MALE; MIDDLE AGED; MUTATION; PHOSPHORIC DIESTER HYDROLASES; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 67650767017     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0027     Document Type: Article

References (22)

1. Stratakis CA. Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin-independent Cushing syndrome). Endocrine Development 2008 13 117-132.
2. Stratakis CA & Boikos SA. Genetics of adrenal tumors associated with Cushing's syndrome: a new classification for bilateral adrenocortical hyperplasias. Nature Clinical Practice. Endocrinology and Metabolism 2007 3 748-757.
3. Bourdeau I, Lampron A, Costa MH, Tadjine M & Lacroix A. Adrenocorticotropic hormone-independent Cushing's syndrome. Current Opinion in Endocrinology, Diabetes and Obesity 2007 14 219-225.
4. Boston BA, Mandel S, LaFranchi S & Bliziotes M. Activating mutation in the stimulatory guanine nucleotide-binding protein in an infant with Cushing's syndrome and nodular adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism 1994 79 890-893.
5. Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, Lucon AM & Mendonca BB. Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. Journal of Clinical Endocrinology and Metabolism 2003 88 2147-2151.
6. Mircescu H, Jilwan J, N'Diaye N, Bourdeau I, Tremblay J, Hamet P & Lacroix A. Are ectopic or abnormal membrane hormone receptors frequently present in adrenal Cushing's syndrome? Journal of Clinical Endocrinology and Metabolism 2000 85 3531-3536.
7. Bertherat J, Contesse V, Louiset E, Barrande G, Duparc C, Groussin L, Emy P, Bertagna X, Kuhn JM, Vaudry H & Lefebvre H. In vivo and in vitro screening for illegitimate receptors in adrenocorticotropin-independent macronodular adrenal hyperplasia causing Cushing's syndrome: identification of two cases of gonadotropin/gastric inhibitory polypeptide-dependent hypercortisolism. Journal of Clinical Endocrinology and Metabolism 2005 90 1302-1310.
8. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS & Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nature Genetics 2000 26 89-92.
9. Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X & Bertherat J. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. Journal of Clinical Endocrinology and Metabolism 2002 87 4324-4329.
10. Groussin L, Kirschner LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA & Bertherat J. Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. American Journal of Human Genetics 2002 71 1433-1442.
11. Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA & Bertherat J. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. Journal of Clinical Endocrinology and Metabolism 2006 91 1943-1949.
12. Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I & Stratakis CA. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nature Genetics 2006 38 794-800.
13. Horvath A, Mericq V & Stratakis CA. Mutation in PDE8B, a cAMP-specific phosphodiesterase in adrenal hyperplasia. New England Journal of Medicine 2008 358 750-752.
14. Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF & Stratakis CA. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Research 2006 66 11571-11575.
15. Bertherat J, Groussin L, Sandrini F, Matyakhina L, Bei T, Stergiopoulos S, Papageorgiou T, Bourdeau I, Kirschner LS, Vincent-Dejean C, Perlemoine K, Gicquel C, Bertagna X & Stratakis CA. Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity. Cancer Research 2003 63 5308-5319.
16. Bourdeau I, Matyakhina L, Stergiopoulos SG, Sandrini F, Boikos S & Stratakis CA. 17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism 2006 91 3626-3632.
17. Libe R, Fratticci A, Coste J, Tissier F, Horvath A, Groussin L, Rene-Corail F, Bertagna X, Raffin-Sanson ML, Stratakis CA & Bertherat J. Phosphodiesterase 11A4 (PDE11A4) and genetic predisposition to adrenocortical tumors. Clinical Cancer Research 2008 14 4016-4024.
18. Boikos S, Horvath A, Heyerdahl S, Stein E, Robinson-White A, Bossis I, Bertherat J & Stratakis CA. Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease and other corticotropin-independent lesions. Hormone and Metabolic Research 2008 40 347-353.
19. Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M & Stratakis CA. A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. European Journal of Human Genetics 2008 16 1245-1253.
20. Gilman AG. A protein binding assay for adenosine 3′:5′-cyclic monophosphate. PNAS 1970 67 305-312.
21. Nesterova MV, Sashchenko LP, Vasiliev VY & Severin ES. A cyclic adenosine 3′,5′-monophosphate-dependent histone kinase from pig brain, Purification and some properties of the enzyme. Biochimica et Biophysica Acta 1975 377 271-281.
22. Nesterova M, Bossis I, Wen F, Horvath A, Matyakhina L & Stratakis CA. An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type allele and other protein kinase A subunits. Journal of Clinical Endocrinology and Metabolism 2008 93 565-571.