A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria

American Journal of Physiology - Gastrointestinal and Liver Physiology

Volumn 288, Issue 6 51-6, 2005, Pages

  Abitbol, Marie ^a   Bernex, Florence ^b   Puy, Hervé ^c   Jouault, Hélène ^d   Deybach, Jean Charles ^c   Guénet, Jean Louis ^a   Montagutełłi, Xavier ^a  

^a INSTITUT PASTEUR   (France)

^b ECOLE NATIONALE VÉTÉRINAIRE D ALFORT   (France)

^c HÔPITAL LOUIS MOURIER   (France)

^d FACULTÉ DE MÉDECINE   (France)

Author keywords

Bilirubin; Chronic hepatitis; Congenic strains; Ferrochelatase; Protoporphyrin

Indexed keywords

BILIRUBIN; HEME; PROTOPORPHYRIN;

ANEMIA; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BILE FLOW; CONGENIC STRAIN; CONTROLLED STUDY; ERYTHROPOIESIS; ERYTHROPOIETIC PROTOPORPHYRIA; FEMALE; JAUNDICE; LIVER CELL; LIVER INJURY; MALE; MOUSE; NONHUMAN; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL;

ANEMIA; ANIMALS; ANIMALS, CONGENIC; BONE MARROW; DISEASE MODELS, ANIMAL; FEMALE; FERROCHELATASE; HUMANS; JAUNDICE; LIVER FAILURE; MALE; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MUTATION; PHENOTYPE; PROTOPORPHYRIA, ERYTHROPOIETIC; PROTOPORPHYRINS; SEVERITY OF ILLNESS INDEX;

EID: 19644392707     PISSN: 01931857     EISSN: None     Source Type: Journal    
DOI: 10.1152/ajpgi.00505.2004     Document Type: Article

References (35)

1. Al-Saktawi K, McLaughlin M, Klugmann M, Schneider A, Barrie JA, McCulloch MC, Montague P, Kirkham D, Nave KA, and Griffiths IR. Genetic background determines phenotypic severity of the Pip rump-shaker mutation. J Neurosci Res 72: 12-24, 2003.
2. Anderson KE, Sassa S, Bishop DF, and Desnick RJ. The porphyrias. In: The Metabolic Basis of Inherited Diseases (8th ed.), edited by Scrive'r CR, Beaudet AL, Sly WS, and Valle D. New York: McGraw-Hill, 2001, p. 2991-3062.
3. m l Pass) in the house mouse. Genomics 16: 645-648, 1993.
4. Cormier RT, Hong KH, Halberg RB, Hawkins TL, Richardson P, Mulherkar R, Dove WF, and Lander ES. Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesis. Nat Genet 17: 88-91, 1997.
5. Ferreira GC. Ferrochelatase. Int J Biochem Cell Biol 31: 995-1000, 1999.
6. Fleming RE, Holden CC, Tomatsu S, Waheed A, Brunt EM, Britton RS, Bacon BR, Roopenian DC, and Sly WS. Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis. Proc Natl Acad Sci USA 98: 2707-2711, 2001.
7. Fontanellas A, Mazurier F, Landry M, Taine L, Morel C, Larou M, Daniel JY, Montagutelli X, de Salamanca RE, and de Verneuil H. Reversion of hepatobiliary alterations by bone marrow transplantation in a murine model of erythropoietic protoporphyria. Hepatology 32: 73-81, 2000.
8. Fontanellas A, Mendez M, Mazurier F, Cario-Andre M, Navarro S, Ged C, Taine L, Géronimi F, Richard E, Moreau-Gaudry F, EdS R, and de Verneuil H. Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells. Gene Ther 8: 618-626, 2001.
9. Gouya L, Deybach JC, Lamoril J, da Silva V, Beaumont C, Grandchamp B, and Nordmann Y. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am J Hum Genet 58: 292-299, 1996.
10. Gouya L, Puy H, Lamoril J, da Silva V, Grandchamp B, Nordmann Y, and Deybach JC. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 93: 2105-2110, 1999.
11. Gouya L, Puy H, Robreau AM, Bourgeois M, Lamoril J, da Silva V, Grandchamp B, and Deybach JC. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 30: 27-28, 2002.
12. Gouya L, Schneider-Yin X, Rufenacht U, Herrero C, Lecha M, Mascaro JM, Puy H, Deybach JC, and Minder El. Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria. J Invest Dermatol 111: 406-409, 1998.
13. Gross U, Frank M, and Doss MO. Hepatic complications of erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed 14: 52-57, 1998.
14. Haston CK, McKerlie C, Newbigging S, Corey M, Rozmahel R, and Tsui LC. Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice. Mamm Genome 13: 605-613 2002.
15. Haston CK and Tsui LC. Loci of intestinal distress in cystic fibrosis knockout mice. Physiol Genomics 12: 79-84, 2003.
16. Henriksson M, Timonen K, Mustajoki P, Pihlaja H, Tenhunen R, Peltonen L, and Kauppinen R. Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients. J Invest Dermatol 106: 346-350, 1996.
17. Li FM, Lim CK, and Peters J. An HPLC assay for rat liver ferrochelatase activity. Biomed Chromatogr 2: 164-168, 1987.
18. Libbrecht L, Meerman L, Kuipers F, Roskams T, Desmet V, and Jansen P. Liver pathology and hepatocarcinogenesis in a long-term mouse model of erythropoietic protoporphyria. J Pathol 199: 191-200, 2003.
19. Lim HW. Pathophysiology of cutaneous lesions in porphyrias. Semin Hematol 26: 114-119, 1989.
20. Magness ST and Brenner DA. Targeted disruption of the mouse ferrochelatase gene producing an exon 10 deletion. Biochim Biophys Acta 1453: 161-174, 1999.
21. Magness ST, Maeda N, and Brenner DA. An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria. Blood 100: 1470-1477, 2002.
22. Meerman L, Koopen NR, Bloks V, van Goor H, Havinga R, Wolthers BG, Kramer W, Stengelin S, Muller M, Kuipers F, and Jansen PLM. Biliary fibrosis associated with altered bile composition in a mouse model of erythropoietic protoporphyria. Gastroenterologe 117: 696-705, 1999.
23. Navarro S, del Hoyo P, Campos Y, Abitbol M, Morán-Jiménez MJ, García-Bravo M, Pilar Ochoa P, Grau M, Montagutelli X, Frank J, Garesse R, Arenas J, Enríquez de Salamanca R, and Fontanellas A. Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria. Exp Dermatol 14: 26-33, 2005.
24. Panthier JJ, Montagutelli X and Guénet JL Génétique de la souris. Paris: Belin, 2003.
25. Pawliuk R, Bachelot T, Wise RJ, Mathews-Roth MM, and Leboulch P. Long-term cure of the photosensitivity of murine erythropoietic protoporphyria by preselective gene therapy. Nat Med 5: 768-773, 1999.
26. Poulos V and Lockwood WH. A rapid method for estimating red blood cell porphyrin. Int J Biochem 12: 1049-1050 1980.
27. Qiu J, Ogus S, Mounzih K, Ewart-Toland A, and Chehab FF. Leptin-deficient mice backcrossed to the BALB/cJ genetic background have reduced adiposity, enhanced fertility, normal body temperature, and severe diabetes. Endocrinology 142: 3421-3425, 2001.
28. Relyea MJ, Miller J, Sundberg JP, and Boggess D. Necropsy methods for laboratory mice: biological characterization of a new mutation. In: Systematic Approach to Evaluation of Mouse Mutations, edited by Sundberg JP and Boggess D. Boca Raton, FL: CRC, 2000, p. 57-89.
29. Richard E, Mendez M, Mazurier F, Morel C, Costet P, Xia P, Fontanellas A, Geronimi F, Cario-Andre M, Taine L, Ged C, Malik P, de Verneuil H, and Moreau-Gaudry F. Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection. Mol Ther 4: 331-338, 2001.
30. Richard E, Robert E, Cario-Andre M, Ged C, Geronimi F, Gerson SL, de Verneuil H, and Moreau-Gaudry F. Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection. Gene Ther 11: 1638-1647, 2004.
31. Rogner UC and Avner PA. Congenic mice: cutting tools for complex immune disorders. Nat Rev Immunol 3: 243-252, 2003.
32. Rufenacht UB, Gouya L, Schneider-Yin X, Puy H, Schafer BW, Aquaron R, Nordmann Y, Minder EI, and Deybach JC. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Am J Hum Genet 62: 1341-1352, 1998.
33. Silver LM. Mouse Genetics. Oxford, UK: Oxford University Press. 1995.
34. Tutois S, Montagutelli X, Da Silva V, Jouault H, Rouyer-Fessard P, Leroy-Viard K, Guénet JL, Nordmann Y, Beuzard Y, and Deybach JC. Erythropoietic protoporphyria in the house mouse - a recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver-disease. J Clin Invest 88: 1730-1736, 1991.
35. Zhou S, Zong Y, Ney PA, Nair G, Stewart CF, and Sorrentino BP. Increased expression of the Abcg2 transporter during erythroid maturation plays a role in decreasing cellular protoporphyrin IX levels. Blood 105: 2571-2576 2005.