Genetic factors influence ethanol-induced uroporphyria in Hfe(-/-) mice

Hepatology

Volumn 40, Issue 4, 2004, Pages 942-950

  Gorman, Nadia ^a,b   Trask, Heidi W ^a,b   Bement, William J ^a   Szakacs, Juliana G ^c   Elder, George H ^d   Balestra, Dominic ^a,b   Jacobs, Nicholas J ^b   Jacobs, Judith M ^b   Sinclair, Jacqueline F ^a,b   Gerhard, Glenn S ^e   Sinclair, Peter R ^a,b  

^a VA MEDICAL CENTER   (United States)

^b DARTMOUTH MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e WEIS CENTER FOR RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; ALCOHOL; CYTOCHROME P450 1A2; DRINKING WATER; HFE PROTEIN; IRON; IRON DEXTRAN; NONHEME IRON PROTEIN; UROPORPHYRIN; UROPORPHYRINOGEN DECARBOXYLASE;

ALCOHOL CONSUMPTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE MODEL; ENZYME ACTIVITY; HOMOZYGOSITY; MALE; MOUSE; MOUSE STRAIN; NONHUMAN; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL; RISK FACTOR;

5-AMINOLEVULINATE SYNTHETASE; ALCOHOL DRINKING; ANIMALS; CENTRAL NERVOUS SYSTEM DEPRESSANTS; CYTOCHROME P-450 CYP1A2; ETHANOL; HISTOCOMPATIBILITY ANTIGENS CLASS I; IRON; IRON-DEXTRAN COMPLEX; LIVER; MALE; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; PORPHYRIA CUTANEA TARDA; UROPORPHYRINS;

EID: 4644220960     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.20402     Document Type: Article

References (35)

1. Elder GH. Porphyria cutanea tarda and related disorders. In: Kadish KM, Smith KM, Guilard R, eds. The porphyrin handbook II. Volume 14. Boston: Academic Press, 2003:62-97.
2. Elder GH. Alcohol intake and porphyria cutanea tarda. Clin Dermatol 1999;17:431-436.
3. Bulaj ZJ, Phillips JD, Ajioka RS, Franklin MR, Griffen LM, Guinee DJ, et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 2000;95:1565-1571.
4. Egger NG, Goeger DE, Payne DA, Miskovsky EP, Weinman SA, Anderson KE. Porphyria cutanea tarda. Multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig Dis Sci 2002;47:419-426.
5. Brady JJ, Jackson HA, Roberts AG, Morgan RR, Whatley SD, Rowlands GL, et al. Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. J Invest Dermatol 2000;115:868-874.
6. Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997;349:321-323.
7. Stuart KA, Busfield F, Jazwinska EC, Gibson P, Butterworth L.A, Cooksley WG, et al. The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients. J Hepatol 1998;28: 404-409.
8. Tannapfel A, Stolzel U, Kostler E, Melz S, Richter M, Keim V, et al. C282Y and H63D mutation of the hemochromatosis gene in german porphyria cutanea tarda patients. Virchows Arch 2001;439:1-5.
9. Shanley BC, Zail SS, Joubert SM. Effect of ethanol on liver delta-aminolaevulinatesynthetase in rats. Lancet 1968;1:70-77.
10. Bonkowsky HL, Healey JF, Sinclair PR, Sinclair JF, Pomeroy JS. Iron and the liver. Acute and long-term effects of iron-loading on hepatic haem metabolism. Biochem J 1981;196:57-64.
11. Whitfield JB, Zhu G, Heath AC, Powell LW, Martin NG. Effects of alcohol consumption on indices of iron stores and of iron stores on alcohol intake markers. Alcohol Clin Exp Res 2001;25:1037-1045.
12. Smith AG. Porphyria caused by chlorinated AH receptor ligands and associated mechanisms of liver injury and cancer. In: Kadish KM, Smith KM, Guilard R, eds. The porphyrin handbook II. Volume 14. Boston: Academic Press, 2003:169-210.
13. Sinclair PR, Gorman N, Walton HS, Bement WJ, Sinclair JF, Gerhard GS, et al. Uroporphyria in Hfe mutant mice given 5-aminolevulinate: A new model of Fe-mediated porphyria cutanea tarda. HEPATOLOGY 2001; 33:406-412.
14. Phillips JD, Jackson LK, Bunting M, Franklin MR, Thomas KR, Levy JE, et al. A mouse model of familial porphyria cutanea tarda. Proc Natl Acad Sci U S A 2001;98:259-264.
15. Sinclair PR, Gorman N, Trask HW, Bement WJ, Szakacs JG, Elder GH, et al. Uroporphyria caused by ethanol in Hfe(-/-) mice as a model for porphyria cutanea tarda. HEPATOLOGY 2003;37:351-358.
16. Levy JE, Montross LK, Cohen DE, Fleming MD, Andrews NC. The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Blood 1999;94:9-11.
17. Fleming RE, Holden CC, Tomatsu S, Waheed A, Brunt EM, Britton RS, et al. Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis. Proc Natl Acad Sci U S A 2001;98:2707-2711.
18. Lambrecht RW, Jacobs JM, Sinclair PR, Sinclair JF. Inhibition of uroporphyrinogen decarboxylase activity. The role of cytochrome P450-mediated uroporphyrinogen oxidation. Biochem J 1990;269:437-441.
19. Sinclair PR, Bement WJ, Bonkovsky HL, Sinclair JF. Inhibition of uroporphyrinogen decarboxylase by halogenated biphenyls in chick hepatocyte cultures. Essential role for induction of cytochrome P-448. Biochem J 1984;222:737-748.
20. Sinclair PR, Gorman N, Jacobs JM. Measurement of heme concentration. In: Maines MD, Costa LG, Reed DJ, Sassa S, Sipes IG, eds. Current protocols in toxicology. Volume 1. New York: John Wiley & Sons, Inc., 2000:8.3.1-8.3.7.
21. Sinclair PR, Gorman N, Walton HS, Bement WJ, Dalton TP, Sinclair JF, et al. CYP1A2 is essential in murine uroporphyria caused by hexachlorobenzene and iron. Toxicol Appl Pharmacol 2000;162:60-67.
22. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Polin phenol reagent. J Biol Chem 1951;193:265-275.
23. Sinclair PR, Gorman N, Walton HS, Sinclair JF, Lee CA, Rifkind AB. Identification of CYP1A5 as the CYP1A enzyme mainly responsible for uroporphyrinogen oxidation induced by Ah receptor ligands in chicken liver and kidney. Drug Metab Dispos 1997;25:779-783.
24. Sinclair PR, Gorman N, Cornell NW. Measurement of ALA synthase activity. In: Maines MD, Costa LG, Reed DJ, Sassa S, Sipes LG, eds. Current protocols in toxicology. Volume 1. New York: John Wiley & Sons, Inc., 1999:8.2.1-8.2.11.
25. Leboeuf RC, Tolson D, Heinecke JW. Dissociation between tissue iron concentrations and transferrin saturation among inbred mouse strains. J Lab Clin Med 1995;126:128-136.
26. Ten Elshof AE, Brittenham GM, Chorney MA, Page MJ, Gerhard G, Cable EE, et al. Gamma delta intraepithelial lymphocytes drive tumor necrosis factor-alpha responsiveness to intestinal iron challenge: relevance to hemochromatosis. Immunol Rev 1999;167:223-232.
27. Gorman N, Walton HS, Bement WJ, Honsinger CP, Szakacs JG, Sinclair JF, et al. Role of small differences in CYP1A2 in the development of uroporphyria produced by iron and 5-aminolevulinate in C57BL/6 and SWR strains of mice. Biochem Pharmacol 1999;58:375-382.
28. Goldstein JA, Hickman P, Bergman H, Vos JG. Hepatic porphyria induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin in the mouse. Res Commun Chem Pathol Pharmacol 1973;6:919-928.
29. Sinclair PR, Gorman N, Dalton T, Walton HS, Bement WJ, Sinclair JF, et al. Uroporphyria produced in mice by iron and 5-aminolaevulinic acid does not occur in Cyp1a2(-/-) null mutant mice. Biochem J 1998;330: 149-153.
30. Gorman N, Ross KL, Walton HS, Bement WJ, Szakacs JG, Gerhard GS, et al. Uroporphyria in mice: thresholds for hepatic CYP1A2 and iron. HEPATOLOGY 2002;35:912-921.
31. Franklin MR, Phillips JD, Kushner JP. Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: interplay with siderosis and polychlorinated biphenyl exposure. HEPATOLOGY 2002;36:805-811.
32. Louis CA, Wood SG, Kostrubsky V, Sinclair PR, Sinclair JF. Synergistic increases in rat hepatic cytochrome P450s by ethanol and isopentanol. J Pharmacol Exp Ther 1994;269:838-845.
33. Fletcher LM, Dixon JL, Purdie DM, Powell LW, Crawford DH. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology 2002;122:281-289.
34. Scotet V, Merour MC, Mercier AY, Chanu B, Le Faou T, Raguenes O, et al. Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation. Am J Epidemiol 2003;158:129-134.
35. Peters MG, Terrault NA. Alcohol use and hepatitis C. HEPATOLOGY 2002;36(Suppl 1):S220-S225.