Serotonin 5-HT2B receptor loss of function mutation in a patient with fenfluramine-associated primary pulmonary hypertension

Cardiovascular Research

Volumn 60, Issue 3, 2003, Pages 518-528

  Blanpain, Cédric ^a,c   Le Poul, Emmanuel ^a   Parma, Jasmine ^a   Knoop, Christiane ^b   Detheux, Michel ^a   Parmentier, Marc ^a   Vassart, Gilbert ^a   Abramowicz, Marc J ^a,b  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^b ERASME HOSPITAL   (Belgium)

^c ROCKEFELLER UNIVERSITY   (United States)

Author keywords

G proteins; Human; Pulmonary circulation; Receptors; Serotonin (5 HT)

Indexed keywords

AMFEPRAMONE; DEXFENFLURAMINE; FENFLURAMINE; PHENTERMINE; SEROTONIN 2B RECEPTOR;

ANIMAL CELL; ARTICLE; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CELL MEMBRANE; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; MALE; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN MODIFICATION; PULMONARY HYPERTENSION;

ANIMALS; APPETITE DEPRESSANTS; CALCIUM; CASE-CONTROL STUDIES; CELL MEMBRANE; CHO CELLS; COS CELLS; CRICETINAE; DNA MUTATIONAL ANALYSIS; FEMALE; FENFLURAMINE; FLOW CYTOMETRY; HUMANS; HYPERTENSION, PULMONARY; MALE; RECEPTOR, SEROTONIN, 5-HT2B;

EID: 0345059064     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cardiores.2003.09.015     Document Type: Article

References (32)

1. Gaine S.P., Rubin L.J. Primary pulmonary hypertension. Lancet. 352:1998;719-725.
2. Abenhaim L., Moride Y., Brenot F.et al. Appetite-suppressant drugs and the risk of primary pulmonary hypertension. International Primary Pulmonary Hypertension Study Group. N. Engl. J. Med. 335:1996;609-616.
3. Delcroix M., Kurz X., Walckiers D.et al. High incidence of primary pulmonary hypertension associated with appetite suppressants in Belgium. Eur. Respir. J. 12:1998;271-276.
4. Deng Z., Morse J.H., Slager S.L.et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am. J. Hum. Genet. 67:2000;737-744.
5. Lane K.B., Machado R.D., Pauciulo M.W.et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium. Nat. Genet. 26:2000;81-84.
6. Thomson J.R., Machado R.D., Pauciuloet al. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGB-β family. J. Med. Genet. 37:2000;741-745.
7. Rothman R.B., Baumann M.H. Serotonin releasing agents. Neurochemical, therapeutic and adverse effects. Pharmacol. Biochem. Behav. 71:2002;825-836.
8. 2B receptor-mediated calcium release from ryanodine-sensitive intracellular stores in human pulmonary artery endothelial cells. Br. J. Pharmacol. 117:1996;1081-1088.
9. 2B receptors. Br. J. Pharmacol. 130:2000;692-698.
10. Launay J.M., Herve P., Peoc'h K.et al. Function of the 5-hydroxytryptamine 2B receptor in pulmonary hypertension. Nat. Med. 8:2002;1129-1135.
11. Manivet P., Mouillet-Richard S., Callebert J.et al. PDZ-dependent activation of nitric-oxide synthases by the serotonin 2B receptor. J. Biol. Chem. 275:2000;9324-9331.
12. Blanpain C., Wittamer V., Vanderwinden J.M.et al. Palmitoylation of CCR5 is critical for receptor trafficking and efficient activation of intracellular signaling pathways. J. Biol. Chem. 276:2001;23795-23804.
13. Samson M., LaRosa G., Libert F.et al. The second extracellular loop of CCR5 is the major determinant of ligand specificity. J. Biol. Chem. 272:1997;24934-24941.
14. Takebe Y., Seiki M., Fujisawa J.et al. SR alpha promoter: an efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat. Mol. Cell. Biol. 8:1988;466-472.
15. Brabet I., Parmentier M.L., De Colle C.et al. Comparative effect of L-CCG-I, DCG-IV and gamma-carboxy-L-glutamate on all cloned metabotropic glutamate receptor subtypes. Neuropharmacology. 37:1998;043-1051.
16. Blanpain C., Migeotte I., Lee B.et al. CCR5 binds multiple CC-chemokines: MCP-3 acts as a natural antagonist. Blood. 94:1999;1899-1905.
17. Machado R.D., Pauciulo M.W., Thomson J.R.et al. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am. J. Hum. Genet. 68:2001;92-102.
18. Cortijo J., Marti-Cabrera M., Bernabeu E.et al. Characterization of 5-HT receptors on human pulmonary artery and vein: functional and binding studies. Br. J. Pharmacol. 122:1997;1455-1463.
19. Yuan X.J., Bright R.T., Aldinger A.M., Rubin L.J. Nitric oxide inhibits serotonin-induced calcium release in pulmonary artery smooth muscle cells. Am. J. Physiol. 272:1997;L44-L50.
20. Morcillo E.J., Cortijo J. Species differences in the responses of pulmonary vascular preparations to 5-hydroxytryptamine. Therapies. 54:1999;93-97.
21. Lamas S., Marsden P.A., Li G.K.et al. Endothelial nitric oxide synthase: molecular cloning and characterization of a distinct constitutive enzyme isoform. Proc. Natl. Acad. Sci. U. S. A. 89:1992;6348-6352.
22. Giaid A., Saleh D. Reduced expression of endothelial nitric oxide synthase in the lungs of patients with pulmonary hypertension. N. Engl. J. Med. 333:1995;214-221.
23. Loscalzo J. Nitric oxide and vascular disease. N. Engl. J. Med. 333:1995;251-253.
24. 2B receptors in mice leads to abnormal cardiac structure and function. Circulation. 103:2001;2973-2979.
25. 1B receptor. Br. J. Pharmacol. 128:1999;730-734.
26. Nebigil C.G., Launay J.M., Hickel P.et al. 5-hydroxytryptamine 2B receptor regulates cell-cycle progression: cross-talk with tyrosine kinase pathways. Proc. Natl. Acad. Sci. U. S. A. 97:2000;2591-2596.
27. Humbert M., Deng Z., Simonneau G.et al. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur. Respir. J. 20:2002;518-523.
28. Atkinson C., Stewart S., Upton P.D.et al. Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of BMPR-II. Circulation. 105:2002;1672-1678.
29. Du L., Sullivan C.C., Chu D.et al. Signaling molecules in nonfamilial pulmonary hypertension. N. Engl. J. Med. 348:2003;500-509.
30. Massague J., Blain S.W., Lo R.S. TGFbeta signaling in growth control, cancer, and heritable disorders. Cell. 103:2000;295-309.
31. Morrell N.W., Yang X., Upton P.D.et al. Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-β1 and bone morphogenetic proteins. Circulation. 104:2001;790-795.
32. Eddahibi S., Humbert M., Fadel E.et al. Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension. J. Clin. Invest. 108:2001;1141-1150.