Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives

Clinical Genetics

Volumn 75, Issue 4, 2009, Pages 346-353

  Badenas, C ^a   To Figueras, Jordi ^a   Phillips, J D ^b   Warby, C A ^b   Munoz C ^a   Herrero, C ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

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

Author keywords

Porphyria; UROD gene; UROD protein

Indexed keywords

ALANINE; ASPARAGINE; ASPARTIC ACID; CYSTEINE; GLUTAMIC ACID; ISOLEUCINE; LEUCINE; METHIONINE; PHENYLALANINE; PORPHYRIN DERIVATIVE; PROLINE; THREONINE; TYROSINE; UROPORPHYRINOGEN DECARBOXYLASE; VALINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ENVIRONMENTAL FACTOR; ENZYME STABILITY; FEMALE; GENE DELETION; GENE IDENTIFICATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION;

ADULT; AGED; AGED, 80 AND OVER; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; ERYTHROCYTES; ESCHERICHIA COLI; FAMILY HEALTH; HUMANS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PORPHYRIA CUTANEA TARDA; PORPHYRINS; UROPORPHYRINOGEN DECARBOXYLASE; YOUNG ADULT;

ESCHERICHIA COLI; HEPATITIS C VIRUS;

EID: 65249118701     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01153.x     Document Type: Article

References (28)

1. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, Vol. 2. New York, NY: McGraw-Hill, 1995: 2103-2160.
2. Kushner JP. The enzymatic defect in porphyria cutanea tarda. N Engl J Med 1982: 306 (13): 799-800.
3. Elder GH. Porphyria cutanea tarda. Semin Liver Dis 1998: 18 (1): 67-75.
4. Bulaj ZJ, Phillips JD, Ajioka RS et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 2000: 95 (5): 1565-1571.
5. 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: Medical aspects of porphyria, Vol. 14. San Diego, CA: Academic Press, 2003: 169-210.
6. Phillips JD, Bergonia HA, Reilly CA, Franklin MR, Kushner JP. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci U S A 2007: 104 (12): 5079-5084.
7. Whitby FG, Phillips JD, Kushner JP, Hill CP. Crystal structure of human uroporphyrinogen decarboxylase. EMBO J 1998: 17 (9): 2463-2471.
8. Martins BM, Grimm B, Mock HP, Huber R, Messerschmidt A. Crystal structure and substrate binding modeling of the uroporphyrinogen-III decarboxylase from Nicotiana tabacum. Implications for the catalytic mechanism. J Biol Chem 2001: 276 (47): 44108-44116.
9. Romana M, Dubart A, Beaupain D, Chabret C, Goossens M, Romeo PH. Structure of the gene for human uroporphyrinogen decarboxylase. Nucleic Acids Res 1987: 15 (18): 7343-7356.
10. The Human Gene Mutation Database (HGMD), Institute of Medical Genetics in Cardiff. Retrieved July 2008, from http://www.hgmd.cf.ac.uk/ac/ index.php
11. Herrero C, Vicente A, Bruguera M et al. Is hepatitis C virus infection a trigger of porphyria cutanea tarda? Lancet 1993: 341 (8848): 788-789.
12. Lim CK, Peters TJ. Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias. Clin Chim Acta 1984: 139 (1): 55-63.
13. Smith SG, Rao KR, Jackson AH. The prophyrins of normal human urine, with a comparison of the excretion pattern in porphyria cutanea tarda. Int J Biochem 1980: 12 (5-6): 1081-1084.
14. McManus J, Blake D, Ratnaike S. An assay of uroporphyrinogen decarboxylase in erythrocytes. Clin Chem 1988: 34 (11): 2355-2357.
15. Miller SA, Dykes DD, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16 (3): 12-15.
16. Phillips JD, Whitby FG, Kushner JP, Hill CP. Characterization and crystallization of human uroporphyrinogen decarboxylase. Protein Sci 1997: 6 (6): 1343-1346.
17. Studier FW. Protein production by auto-induction in high density shaking cultures. Protein Expr Purif 2005: 41 (1): 207-234.
18. Zweig MH, Campbell G. Receiver-operating characteristic (ROC) plots: A fundamental evaluation tool in clinical medicine. Clin Chem 1993: 39 (4): 561-577.
19. Cappellini MD, Martinez di Montemuros F, Tavazzi D et al. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda. Hum Mutat 2001: 17 (4): 350.
20. Christiansen L, Brøns-Poulsen J, Hørder M, Brock A, Petersen NE. Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations. Scand J Clin Lab Invest 2005: 65 (3): 227-235.
21. Poblete-Gutiérrez P, Mendez M, Wiederholt T et al. The molecular basis of porphyria cutanea tarda in Chile: Identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene. Exp Dermatol 2004: 13 (6): 372-379.
22. Bruguera M, Forns X. Hepatitis C in Spain. Med Clin (Barc) 2006: 127 (3): 113-117.
23. Méndez M, Poblete-Gutiérrez P, García-Bravo M et al. Molecular heterogeneity of familial porphyria cutanea tarda in Spain: Characterization of 10 novel mutations in the UROD gene. Br J Dermatol 2007: 157 (3): 501-507.
24. Ged C, Ozalla D, Herrero C et al. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol 2002: 138 (7): 957-960.
25. Armstrong DK, Sharpe PC, Chambers CR, Whatley SD, Roberts AG, Elder GH. Hepatoerythropoietic porphyria: A missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Br J Dermatol 2004: 151 (4): 920-923.
26. Meguro K, Fujita H, Ishida N et al. Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. J Invest Dermatol 1994: 102 (5): 681-685.
27. Phillips JD, Parker TL, Schubert HL, Whitby FG, Hill CP, Kushner JP. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Blood 2001: 98 (12): 3179-3185.
28. Martinez di Montemuros F, Di Pierro E, Patti E et al. Molecular characterization of porphyrias in Italy: A diagnostic flow-chart. Cell Mol Biol (Noisy-le-grand) 2002: 48 (8): 867-876.