δ-Aminolevulinate dehydratase (ALAD) porphyria: The first case in North America with two novel ALAD mutations

Molecular Genetics and Metabolism

Volumn 87, Issue 4, 2006, Pages 329-336

  Akagi, Reiko ^a   Kato, Noriko ^a   Inoue, Rikako ^a   Anderson, Karl E ^b   Jaffe, Eileen K ^c   Sassa, Shigeru ^d  

^a OKAYAMA PREFECTURAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^c FOX CHASE CANCER CENTER   (United States)

^d ROCKEFELLER UNIVERSITY   (United States)

Author keywords

Aminolevulinate dehydratase; Compound heterozygote; Doss porphyria; Hepatic porphyria; Point mutation

Indexed keywords

COMPLEMENTARY DNA; PORPHOBILINOGEN SYNTHASE; ZINC;

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; GENE MUTATION; HEPATIC PORPHYRIA; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS;

ADOLESCENT; ANIMALS; CATALYTIC DOMAIN; CHO CELLS; CRICETINAE; CRICETULUS; ERYTHROCYTES; HUMANS; LEAD; MALE; MITOCHONDRIA; MUTATION; PEDIGREE; PORPHOBILINOGEN SYNTHASE; PORPHYRIAS; SEQUENCE ANALYSIS, DNA; ZINC;

CRICETULUS GRISEUS;

EID: 33645116987     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.10.011     Document Type: Article

References (31)

1. S. Sassa Delta-aminolevulinic acid dehydratase assay Enzyme 28 2-3 1982 133 145
2. T.D. Bird, P. Hamernyik, J.Y. Nutter, and R.F. Labbe Inherited deficiency of delta-aminolevulinic acid dehydratase Am. J. Hum. Genet. 31 6 1979 662 668
3. R. Akagi, Y. Yasui, P. Harper, and S. Sassa A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity Br. J. Haematol. 106 4 1999 931 937
4. S. Sassa ALAD porphyria Semin. Liver Dis. 18 1 1998 95 101
5. J.L. Granick, S. Sassa, and A. Kappas Some biochemical and clinical aspects of lead intoxication O. Bodansky A.L. Latner Advances in Clinical Chemistry 1978 Academic Press New York 287 339
6. S. Sassa, and A. Kappas Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone J. Clin. Invest. 71 3 1983 625 634
7. M. Doss, R.V. Tiepermann, and J. Schneider Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria Klin. Wochenschr. 61 14 1983 699 702
8. S. Thunell, L. Holmberg, and J. Lundgren Aminolaevulinate dehydratase porphyria in infancy. A clinical and biochemical study J. Clin. Chem. Clin. Biochem. 25 1 1987 5 14
9. A. Hassoun, L. Verstraeten, R. Mercelis, and J.J. Martin Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man J. Clin. Chem. Clin. Biochem. 27 10 1989 781 786
10. M.O. Doss, T. Stauch, U. Gross, M. Renz, R. Akagi, M. Doss-Frank, H.P. Seelig, and S. Sassa The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany J. Inherit. Metab. Dis. 27 4 2004 529 536
11. M. Plewinska, S. Thunell, L. Holmberg, J.G. Wetmur, and R.J. Desnick delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote Am. J. Hum. Genet. 49 1 1991 167 174
12. N. Ishida, H. Fujita, Y. Fukuda, T. Noguchi, M. Doss, A. Kappas, and S. Sassa Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria J. Clin. Invest. 89 5 1992 1431 1437
13. R. Akagi, R. Shimizu, K. Furuyama, M.O. Doss, and S. Sassa Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria Hepatology 31 3 2000 704 708
14. R. Akagi, C. Nishitani, H. Harigae, Y. Horie, L. Garbaczewski, A. Hassoun, R. Mercelis, L. Verstraeten, and S. Sassa Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria Blood 96 10 2000 3618 3623
15. S. Breinig, J. Kervinen, L. Stith, A.S. Wasson, R. Fairman, A. Wlodawer, A. Zdanov, and E.K. Jaffe Control of tetrapyrrole biosynthesis by alternate quaternary forms of porphobilinogen synthase Nat. Struct. Biol. 10 9 2003 757 763
16. J.G. Wetmur, D.F. Bishop, C. Cantelmo, and R.J. Desnick Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone Proc. Natl. Acad. Sci. USA 83 20 1986 7703 7707
17. E.K. Jaffe, J. Martins, J. Li, J. Kervinen, and R.L. Dunbrack Jr. The molecular mechanism of lead inhibition of human porphobilinogen synthase J. Biol. Chem. 276 2 2001 1531 1537
18. J.M. Chirgwin, A.E. Przybyla, R.J. MacDonald, and W.J. Rutter Isolation of biologically active ribonucleic acid from sources enriched in ribonucleas Biochemistry 18 24 1979 5294 5299
19. A.H. Kaya, M. Plewinska, D.M. Wong, R.J. Desnick, and J.G. Wetmur Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs Genomics 19 2 1994 242 248
20. F. Sanger, S. Nicklen, and A.R. Coulson DNA sequencing with chain-terminating inhibitors Proc. Natl. Acad. Sci. USA 74 12 1977 5463 5467
21. K. O'Hare, C. Benoist, and R. Breathnach Transformation of mouse fibroblasts to methotrexate resistance by a recombinant plasmid expressing a prokaryotic dihydrofolate reductase Proc. Natl. Acad. Sci. USA 78 3 1981 1527 1531
22. C.S. Chang, and S. Sassa delta-Aminolevulinate dehydratase in human erythroleukemia cells: an immunologically distinct enzyme Blood 65 4 1985 939 944
23. O.H. Lowry, N.J. Rosebrough, A.L. Farr, and R.J. Randall Protein measurement with the Folin phenol reagent J. Biol. Chem. 193 1 1951 265 275
24. Y. Nordmann, and H. Puy Human hereditary hepatic porphyrias Clin. Chim. Acta 325 1-2 2002 17 37
25. M. Maruno, K. Furuyama, R. Akagi, Y. Horie, K. Meguro, L. Garbaczewski, N. Chiorazzi, M.O. Doss, A. Hassoun, R. Mercelis, L. Verstraeten, P. Harper, Y. Floderus, S. Thunell, and S. Sassa Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria Blood 97 10 2001 2972 2978
26. A.J. Dent, D. Beyersmann, C. Block, and S.S. Hasnain Two different zinc sites in bovine 5-aminolevulinate dehydratase distinguished by extended X-ray absorption fine structure Biochemistry 29 34 1990 7822 7828
27. P.T. Erskine, N. Senior, S. Awan, R. Lambert, G. Lewis, I.J. Tickle, M. Sarwar, P. Spencer, P. Thomas, M.J. Warren, P.M. Shoolingin-Jordan, S.P. Wood, and J.B. Cooper X-ray structure of 5-aminolaevulinate dehydratase, a hybrid aldolase Nat. Struct. Biol. 4 12 1997 1025 1031
28. N.L. Mills-Davies, Structure of human erythrocyte 5-aminolaevulinic acid dehydratase, the second enzyme in the biosynthesis pathway of haem, in University of Southampton. 2000, University of Southampton: Southampton.
29. M.J. Warren, J.B. Cooper, S.P. Wood, and P.M. Shoolingin-Jordan Lead poisoning, haem synthesis and 5-aminolaevulinic acid dehydratase Trends Biochem. Sci. 23 6 1998 217 221
30. L. Tang, L. Stith, and E.K. Jaffe Substrate-induced interconversion of protein quaternary structure isoforms J. Biol. Chem. 280 16 2005 15786 15793
31. R.A. Sayle, and E.J. Milner-White RASMOL: biomolecular graphics for all Trends Biochem. Sci. 20 9 1995 374 376