Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients

European Journal of Endocrinology

Volumn 161, Issue 5, 2009, Pages 687-694

  Peverelli, E ^a   Ermetici, F ^a   Filopanti, M ^a   Elli, F M ^a   Ronchi, C L ^a   Mantovani, G ^a   Ferrero, S ^b   Bosari, S ^b   Beck Peccoz, P ^a   Lania, A ^a   Spada, A ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SAN PAOLO HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CYSTEINE; DNA; GLYCINE; GROWTH HORMONE; HISTIDINE; METHIONINE; PHOSPHODIESTERASE; PHOSPHODIESTERASE 11A; TYROSINE; UNCLASSIFIED DRUG; VALINE; PDE11A PROTEIN, HUMAN;

ACROMEGALY; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL EXAMINATION; CLINICAL TRIAL; CONTROLLED STUDY; CROSSOVER PROCEDURE; DNA EXTRACTION; FEMALE; FROZEN SECTION; GENE EXPRESSION; GENE LOCUS; GENETIC ANALYSIS; GENETIC VARIABILITY; GERM LINE; GROWTH HORMONE SECRETING ADENOMA; HETEROZYGOSITY LOSS; HORMONE DETERMINATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPHYSECTOMY; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WILD TYPE; ADENOMA; BLOOD; CHEMISTRY; ENZYMOLOGY; GENETICS; HYPOPHYSIS TUMOR; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; REGRESSION ANALYSIS;

ACROMEGALY; ADENOMA; ADULT; BASE SEQUENCE; DNA, NEOPLASM; FEMALE; GENETIC VARIATION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PHOSPHORIC DIESTER HYDROLASES; PITUITARY NEOPLASMS; POLYMERASE CHAIN REACTION; REGRESSION ANALYSIS;

EID: 70449704176     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0677     Document Type: Article

References (21)

1. Spada A, Lania A & Mantovani G. Hormonal signalling and pituitary adenomas. Neuroendocrinology 2007 85 101-109.
2. Bender AT & Beavo JA. Cyclic nucleotide phosphodiesterases: molecular regulation to clinical use. Pharmacological Reviews 2006 58 488-520.
3. Lugnier C. Cyclic nucleotide phosphodiesterase (PDE) superfamily: a new target for the development of specific therapeutic agents. Pharmacology & Therapeutics 2006 109 366-398. (Pubitemid 43132818)
4. Lania A, Persani L, Ballaré E, Mantovani S, Losa M & Spada A. Constitutively active Gs α is associated with an increased phosphodiesterase activity in human growth hormone-secreting adenomas. Journal of Clinical Endocrinology and Metabolism 1998 83 1624-1628. (Pubitemid 28501033)
5. Persani L, Borgato S, Lania A, Filopanti M, Mantovani G, Conti M & Spada A. Relevant cAMP-specific phosphodiesterase isoforms in human pituitary: effect of Gs(a) mutatialphans. Journal of Clinical Endocrinology and Metabolism 2001 86 3795-3800. (Pubitemid 32755978)
6. Fawcett L, Baxendale R, Stacey P, McGrouther C, Harrow I, Soderling S, Hetman J, Beavo JA & Phillips SC. Molecular cloning and characterization of a distinct human phosphodiesterase gene family: PDE11A. PNAS 2000 97 3702-3707. (Pubitemid 30183366)
7. Yuasa K, Kotera J, Fujishige K, Michibata H, Sasaki T & Omori K. Isolation and characterization of two novel phosphodiesterase PDE11A variants showing unique structure and tissue-specific expression. Journal of Biological Chemistry 2000 275 31469-31479. (Pubitemid 30757819)
8. Loughney K, Taylor J & Florio VA. 30,50-Cyclic nucleotide phosphodiesterase 11A: localization in human tissues. International Journal of Impotence Research 2005 17 320-325.
9. 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, Libé R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I & Stratakis CA. A genomewide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nature Genetics 2006 38 794-800.
10. 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. (Pubitemid 46094164)
11. Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA & Bertherat J. Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clinical Cancer Research 2008 14 4016-4024.
12. Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J & Stratakis CA. Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Research 2009 69 5301-5306.
13. Coggi G, Bosari S, Roncalli M, Graziani D, Bossi P, Viale G, Buffa R, Ferrero S, Piazza M, Blandamura S, Segalin A, Bonavina L & Peracchia A. p53 protein accumulation and p53 gene mutation in esophageal carcinoma. A molecular and immunohistochemical study with clinicopathologic correlations. Cancer 1997 79 425-432.
14. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E & Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. New England Journal of Medicine 1991 325 1688-1695.
15. 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-a regulatory subunit in patients with the Carney complex. Nature Genetics 2000 26 89-92. (Pubitemid 30692864)
16. 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 subunit1A (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. (Pubitemid 36018745)
17. Gal A, Orth U, Baehr W, Schwinger E & Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nature Genetics 1994 7 64-68. (Pubitemid 24977992)
18. McLaughlin ME, Sandberg MA, Berson EL & Dryja TP. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genetics 1993 4 130-134.
19. Muradov KG, Granovsky AE & Artemyev NO. Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit. Biochemistry 2003 42 3305-3310.
20. Wong ML, Whelan F, Deloukas P, Whittaker P, Delgado M, Cantor RM, McCann SM & Licinio J. Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response. PNAS 2006 103 15124-15129. (Pubitemid 44583175)
21. Scaroni C, Selice R, Benedini S, De Menis E, Arosio M, Ronchi C, Gasperi M, Manetti L, Arnaldi G, Polenta B, Boscaro M, Albiger N, Martino E & Mantero F. Adrenal morpho-functional alterations in patients with acromegaly. Journal of Endocrinological Investigation 2008 31 602-606.