Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase

Journal of Investigative Dermatology

Volumn 124, Issue 1, 2005, Pages 256-262

  Pawliuk, Robert ^a   Tighe, Robert ^a   Wise, Robert J ^b   Mathews Roth, Micheline M ^b,d   Leboulch, Philippe ^a,b,c  

^a MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c Division of Genetics   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Cirrhosis; Erythropoietic protoporphyia; Ferrochelatase; Photosensitivity

Indexed keywords

BILIRUBIN; FERROCHELATASE; PROTOPORPHYRIN;

ANIMAL CELL; ANIMAL MODEL; ARTICLE; BONE MARROW TRANSPLANTATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ERYTHROCYTE; ERYTHROCYTE LEVEL; ERYTHROPOIETIC PROTOPORPHYRIA; FEMALE; HISTOPATHOLOGY; LIVER CELL; LIVER DISEASE; LIVER INJURY; MALE; MOUSE; NONHUMAN; PHOTOSENSITIVITY; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; SKIN CELL; SKIN GRAFT; VALIDATION PROCESS; VITAMIN BLOOD LEVEL; WILD TYPE;

EID: 11944261506     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23529.x     Document Type: Article

References (16)

1. Bloomer JR: The porphyrins. In: Schiff ER, Sorrel MF, Maddrey WC (eds). Schiff's Diseases of the Liver, 8th edn. Philadelphia: Lippincott-Raven Publications, 1999; p 1151-1178
2. Bloomer JR, Rank JM, Payne WD, Snover DC, Sharp HL, Zwiener RJ, Carithers RL: Follow-up after liver transplantation for protoporphyric liver disease. Liver Transplant Surg 2:269-275, 1996
3. m1Pas) in the house mouse. Genomics 16:645-648, 1993
4. Chen FP, Risheg H, Liu Y, Bloomer J: Ferrochelatase gene mutations in erythropoietic protoporphyria: Focus on liver disease. Cell Mol Biol 48:83-89, 2002
5. Desnick R: In: Isselbacher KJ, et al: (eds). The prophyrias. In: Harrison's Principles of Internal Medicine, Vol. 1, 13th edn. New York: McGraw-Hill, 1994:2073
6. Fontanellas A, Mazurier F, Landry M, et al: Reversion of hepatobiliary alterations by bone marrow transplantation in a murine model of erythropoietic protoporphyria. Hepatology 32:73-81, 2000
7. Fontanellas A, Mendez M, Mazurier F, et al: Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietlc cells. Gene Ther 8:618-626, 2001
8. Kappas A, Sassa S, Galbraith RA, Nordmann Y: The porphyrias. In: Schriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1995; p 2103-2159
9. Key NS, Rank JM, Freese D, Bloomer JR, Hammerschmidt DE: Hemolytic anemia in protoporphyria: Possible precipitating role of liver failure and photic stress. Am J Hematol 39:202-207, 1992
10. Mathews-Roth MM, Pathak MA, Fitzpatrick TB, Harber LH, Kass EH: Beta carotene therapy for erythropoietic protoporphyria and other photosensitivity diseases. Arch Dermatol 113:1229-1232, 1977
11. Minder EI, Gouya L, Schneider-Yin X, Deybach JC: A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. Cell Mol Biol 48, 91-96, 2002
12. Pawliuk R, Bachelot T, Wise RJ, Mathews-Roth MM, Lebouldh P: Long-term cure of the photosensitivity of murine erythropoietic protoporphyria by preselective gene therapy. Nat Med 5:768-773, 1999
13. Piomelli S: Free erythrocyte porphyrins in the detection of undue absorption of Pb and of Fe deficiency. Clin Chem 23:264-269, 1977
14. Poh-Fitzpatrick MB, Wang X, Anderson KE, Bloomer JR, Bolwell B, Lichtin AE: Erythropoietic protoporphyria: Altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations. J Am Acad Dermatol 46:861-866, 2002
15. Richard E, Mendez M, Mazurier F, et al: Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection. Mol Ther 4:331-338, 2001
16. Tutois S, Montagutelli X, Da Silva V, et al: Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. J Clin Invest 88:1730-1736, 1991