Evidence that PKA activity is constitutively activated in human GH-secreting adenoma cells in a patient with Carney complex harbouring a PRKAR1A mutation

Clinical Endocrinology

Volumn 70, Issue 5, 2009, Pages 769-775

  Takano, Koji ^a   Yasufuku Takano, Junko ^a   Morita, Koji ^a   Mori, Shigetoshi ^a   Takei, Mao ^b   Osamura, Robert Yoshiyuki ^c   Teramoto, Akira ^b   Fujita, Toshiro ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b NIPPON MEDICAL SCHOOL   (Japan)

^c TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; VOLTAGE GATED CALCIUM CHANNEL;

ADULT; ARTICLE; CALCIUM TRANSPORT; CARNEY COMPLEX; CASE REPORT; CHROMOSOME 17Q; CODOMINANCE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GROWTH HORMONE SECRETING ADENOMA; HETEROZYGOSITY LOSS; HORMONE RELEASE; HUMAN; HUMAN CELL; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; CALCIUM CHANNELS; CODON, NONSENSE; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; CYCLIC AMP-DEPENDENT PROTEIN KINASES; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; ENZYME ACTIVATION; FRAMESHIFT MUTATION; GERM-LINE MUTATION; GROWTH HORMONE-SECRETING PITUITARY ADENOMA; HETEROZYGOTE; HUMANS; LENTIGO; MALE; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; SYNDROME;

EID: 63149085063     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2008.03457.x     Document Type: Article

References (24)

1. Carney, J.A. Young, W.F. (1992) Primary pigmented nodular adrenocortical disease and its associated conditions. Endocrinologist, 2, 6 21.
2. Kirschner, L.S., Sandrini, F., Mondo, J. et al. (2000) Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Human Molecular Genetics, 9, 3037 3046.
3. Pack, S.D., Kirschner, L.S., Pak, E. et al. (2000) Genetic and histologic studies of somatomammotropic pituitary tumour in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex). Journal of Clinical Endocrinology and Metabolism, 85, 3860 3865.
4. Raff, S.B., Carney, J.A., Knugman, D. et al. (2000) Prolactin secretion abnormalities in patients with the 'syndrome of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex). Journal of Pediatric Endocrinology and Metabolism, 13, 373 379.
5. Spada, A., Lania, A. Ballare, E. (1998) G protein abnormalities in pituitary adenomas. Molecular and Cellular Endocrinology, 142, 1 14.
6. Yasufuku-Takano, J., Takano, K., Morita, K. et al. (2006) Does the prevalence of gsp mutations in GH-secreting pituitary adenomas differ geographically or racially? Prevalence of gsp mutations in Japanese patients revisited. Clinical Endocrinology, 64, 91 96.
7. Weinstein, L.S., Shenker, A., Gejman, P.V. et al. (1991) Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. New England Journal of Medicine, 325, 1688 1695.
8. Stratakis, C.A. (2000) Genetics of Carney complex and related familial lentiginosis, and other multiple tumour syndromes. Frontiers in Bioscience, 5, D353 D366.
9. Stratakis, C.A., Carney, J.A., Lin, J.P. et al. (1996) Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. Journal of Clinical Investigation, 97, 699 705.
10. Casey, M., Mah, C., Merliss, A.D. et al. (1998) Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation, 98, 2560 2566.
11. Kirschner, L.S., Carney, J.A., Pack, S.D. et al. (2000) Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nature Genetics, 26, 89 92.
12. Casey, M., Vaughan, C.J., He, J. et al. (2000) Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. Journal of Clinical Investigation, 106, R31 R38.
13. Takano, K., Takei, T., Teramoto, A. et al. (1996) Growth hormone-releasing hormone activates a cation current in human growth hormone-secreting adenoma cells. American Journal of Physiology, 270, E1050 E1057.
14. Chen, C., Zhang, J., Vincent, J.D. et al. (1990) Sodium and calcium currents in action potentials of rat somatotrophs: their possible functions in growth hormone secretion. Life Sciences, 46, 983 989.
15. + channels by dopamine in human GH-producing cells. American Journal of Physiology, 266, E318 E325.
16. Yasufuku-Takano, J., Takano, K., Fukumoto, S. et al. (1999) Heterozygous gsp mutation renders ion channels of human somatotroph adenoma cells unresponsive to growth hormone-releasing hormone. Endocrinology, 140, 2018 2026.
17. Gennari, M., Stratakis, C.A., Hovarth, A. et al. (2008) A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations. Clinical Endocrinology, 69, 751 755.
18. Boikos, S.A. Stratakis, C.A. (2006) Carney complex: pathology and molecular genetics. Neuroendocrinology, 83, 189 199.
19. Robinson-White, A., Hundley, T.R., Shiferaw, M. et al. (2003) Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Human Molecular Genetics, 12, 1475 1484.
20. + current in the primary cultured rat somatotroph. Endocrinology, 138, 5096 5100.
21. 2+ or K channels in pituitary somatotropes. Immunology and Cell Biology, 78, 356 368.
22. De Jongh, K.S., Murphy, B.J., Colvin, A.A. et al. (1996) Specific phosphorylation of a site in the full-length form of the alpha 1 subunit of the cardiac 1-type calcium channel by adenosine 3′,5′-cyclic monophosphate-dependent protein kinase. Biochemistry, 35, 10392 10402.
23. i in human GH-secreting adenoma cells. American Journal of Physiology, 271, E801 E807.
24. Yin, Z., Williams-Simons, L., Parlow, A.F. et al. (2008) Pituitary-specific knockout of the Carney complex gene Prkar1a leads to pituitary tumourigenesis. Molecular Endocrinology, 22, 380 387.