Impact of serotonin transporter and catechol-O-methyl transferase genes polymorphism on gastrointestinal dysfunction in Swedish and Japanese familial amyloidotic polyneuropathy patients

Clinica Chimica Acta

Volumn 398, Issue 1-2, 2008, Pages 10-14

  Obayashi, Konen ^a,b   Olsson, Malin ^a   Anan, Intissar ^a   Ueda, Mitsuharu ^b   Nakamura, Masaaki ^c   Okamoto, Sadahisa ^b   Yamashita, Taro ^b   Miida, Takashi ^d   Ando, Yukio ^b   Suhr, Ole B ^a  

^a UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^b KUMAMOTO UNIVERSITY   (Japan)

^c NATIONAL INSTITUTE FOR MINAMATA DISEASE   (Japan)

^d JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Catechol O methyl transferase (COMT); Familial amyloidotic polyneuropathy (FAP); Gastrointestinal dysfunction; Serotonin transporter gene linked polymorphic region (5 HTTLPR) polymorphism

Indexed keywords

CATECHOL METHYLTRANSFERASE; METHIONINE; PREALBUMIN; SEROTONIN TRANSPORTER; VALINE;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONSTIPATION; DIARRHEA; DIGESTIVE SYSTEM FUNCTION DISORDER; ETHNIC DIFFERENCE; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GASTROINTESTINAL SYMPTOM; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; JAPANESE; MALE; NAUSEA; PRIORITY JOURNAL; SWEDEN; VOMITING;

ADULT; ALLELES; AMYLOID NEUROPATHIES, FAMILIAL; CATECHOL O-METHYLTRANSFERASE; CONSTIPATION; DIARRHEA; DNA; FEMALE; GASTROINTESTINAL DISEASES; HUMANS; JAPAN; MALE; MIDDLE AGED; NAUSEA; POLYMORPHISM, GENETIC; PREALBUMIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEROTONIN PLASMA MEMBRANE TRANSPORT PROTEINS; SWEDEN; VOMITING;

EID: 54049128420     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.07.033     Document Type: Article

References (31)

1. Dwulet F.E., and Benson M.D. Polymorphism of human plasma thyroxin binding prealbumin. Biochem Biophys Res Commun 114 (1983) 657-662
2. Araki S. Type I familial amyloidotic polyneuropathy (Japanese type). Brain Dev 6 (1984) 128-133
3. Tawara S., Nakazato M., Kangawa K., Matsuo H., and Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun 116 (1983) 880-888
4. Monterio J.G. Familial amyloidosis with gastrointestinal neuropathy. Gut 9 (1968) 353-354
5. Steen L., and Ek B. Familial amyloidosis with polyneuropathy. A long term follow up of 21 patients with special reference to gastrointestinal symptoms. Acta Med Scand 214 (1984) 387-397
6. Ando Y., Araki S., and Ando M. Transthyretin and familial amyloidotic polyneuropathy. Intern Med 32 (1993) 920-922
7. Ando Y., and Suhr O. Autonomic dysfunction in familial amyloidotic polyneuropathy (FAP). Amyloid Int J Exp Clin Invest 5 (1998) 288-300
8. Tashima K., Suhr O.B., Ando Y., et al. Gastrointestinal dysfunction in familial amyloidotic polyneuropathy (ATTR Val30Met) - comparison of Swedish and Japanese patients. Amyloid Int J Exp Clin Invest 6 (1999) 124-129
9. Pata C., Erdal M.E., Derici E., Yazar A., Kanik A., and Ulu O. Serotonin transporter gene polymorphism in irritable bowel syndrome. Am J Gastroenterol 97 (2002) 1780-1784
10. Camilleri M., Atanasova E., Carlson P.J., et al. Serotonin-transporter polymorphism pharmacogenetics in diarrhea-predominant irritable bowel syndrome. Gastroenterology 123 (2002) 425-432
11. Yeo A., Boyd P., Lumsden S., et al. Association between a functional polymorphism in the serotonin transporter gene and diarrhoea predominant irritable bowel syndrome in women. Gut 53 (2004) 1452-1458
12. Park J.M., Choi M.G., Park J.A., et al. Serotonin transporter gene polymorphism and irritable bowel syndrome. Neurogastroenterol Motil 18 (2006) 995-1000
13. Saito Y.A., Locke III G.R., Zimmerman J.M., et al. A genetic association study of 5-HTT LPR and GNbeta3 C825T polymorphisms with irritable bowel syndrome. Neurogastroenterol Motil 19 (2007) 465-470
14. Van Kerkhoven L.A., Laheij R.J., and Jansen J.B. Meta-analysis: a functional polymorphism in the gene encoding for activity of the serotonin transporter protein is not associated with the irritable bowel syndrome. Aliment Pharmacol Ther 26 (2007) 979-986
15. Chong D.J., Suchowersky O., Szumlanski C., Weinshilboum R.M., Brant R., and Campbell N.R. The relationship between COMT genotype and the clinical effectiveness of tolcapone, a COMT inhibitor, in patients with Parkinson's disease. Clin Neuropharmacol 23 (2000) 143-148
16. Lesch K.P., Bengel D., Heils A., et al. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 29 (1996) 1527-1531
17. Collier D.A., Stöber G., Li T., et al. A novel functional polymorphism within the promoter of the serotonin transporter gene: possible role in susceptibility to affective disorders. Mol Psychiatry 1 (1996) 453-460
18. Hu X.Z., Lipsky R.H., Zhu G., et al. Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder. Am J Hum Gen 78 (2006) 815-826
19. Rajput A.H., Martin W., Saint-Hilaire M.H., Dorflinger E., and Pedder S. Tolcapone improves motor function in parkinsonian patients with the "wearing-off" phenomenon: a double-blind, placebo-controlled, multicenter trial. Neurology 49 (1997) 1066-1071
20. Hauser R.A., Molho E., Shale H., Pedder S., and Dorflinger E.E. A pilot evaluation of the tolerability, safety, and efficacy of tolcapone alone and in combination with oral selegiline in untreated Parkinson's disease patients. Mov Disord 13 (1998) 643-647
21. Lachman H.M., Papolos D.F., Saito Y., Yu Y.M., Szumlanski C.L., and Weinshilboum R.M. Human catechol-O-methyl transferase pharmacogenetics: description of a functional polymorphisms and its potential application to neuropsychiatric disorders. Pharmacogenetics (1996) 243-250
22. Gershon M.D. Review article: serotonin receptors and transporters - roles in normal and abnormal gastrointestinal motility. Aliment Pharmacol Ther 20 Suppl 7 (2004) 3-14
23. Blakely R.D., Berson H.E., Fremeau Jr. R.T., et al. Cloning and expression of a functional serotonin transporter from rat brain. Nature 354 (1991) 66-70
24. El-Salhy M., Suhr O., Stenling R., Wilander E., and Grimelius L. Impact of familial amyloid associated polyneuropathy on duodenal endocrine cells. Gut 35 (1994) 1413-1418
25. El-Salhy M., and Suhr O. Endocrine cells in rectal biopsy specimens from patients with familial amyloidotic polyneuropathy. Scand J Gastroenterol 31 (1996) 68-73
26. Anan I., El-Salhy M., Ando Y., et al. Colonic endocrine cells in patients with familial amyloidotic polyneuropathy. J Intern Med 245 (1999) 469-473
27. Chen J.J., Li Z., Pan H., et al. Maintenance of serotonin in the intestinal mucosa and ganglia of mice that lack the high-affinity serotonin transporter: abnormal intestinal motility and the expression of cation transporters. J Neurosci 21 (2001) 6348-6361
28. Eisenhofer G., and Finberg J.P. Different metabolism of norepinephrine and epinephrine by catechol-O-methyltransferase and monoamine oxidase in rats. J Pharmacol Exp Ther 268 (1994) 1242-1251
29. Johnston J.P. Some observations upon a new inhibitor of monoamine oxidase in brain tissue. Biochem Pharmacol 17 (1968) 1285-1297
30. Knoll J., and Mayger K. Some puzzling pharmacological effects of monoamine oxidase inhibitors. In: Costa E., and Sandler M. (Eds). Advances in biochemical pharmacology. Monoamine oxidases vol. 5 (1972), Raven Press, New York 393-408
31. Camilleri M. Drugs targeting functional bowel disorders: lessons from drug trials. Curr Opin Pharmacol 2 (2002) 684-690