Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.

The Journal of Clinical Investigation
H L BonkowskyM J Mahoney

Abstract

The final step in heme biosynthesis is chelation of porphyrin with Fe++ catalyzed by the mitochondrial enzyme heme synthetase. We have employed a sensitive radiochemical assay for this enzyme, using 59Fe and deuteroporphyrin or protoporphyrin as substrates. In this method iron is maintained in the ferrous state, oxygen is excluded from the incubation system, and labeled heme product is extracted into ethyl acetate. This assay has been used to measure the activity of heme synthetase in homogenates of liver, obtained by needle biopsy, and in sonicates of human skin fibroblasts, cultured in vitro. In addition, activity of the first enzyme of the heme synthetic pathway, delta-aminolevulinic acid synthetase, has been measured in fibroblast lysates. Lysates of fibroblasts from eight patients with protoporphyria had activities of delta-aminolevulinic acid synthetase which did not differ significantly from those of eight normal fibroblast lines, whereas activity of heme synthetase, with either deuteroporphyrin or protoporphyrin as substrate, was markedly decreased in sonicates of skin fibroblasts from these patients, the mean being 8% of control with deuteroporphyrin and 14% with protoporphyrin as substrate. In homogenates of liver fro...Continue Reading

References

Jan 1, 1974·Proceedings of the Society for Experimental Biology and Medicine·P S Ebert, G R Pearson
Oct 1, 1968·Proceedings of the National Academy of Sciences of the United States of America·R TenhunenR Schmid
Apr 28, 1973·Biochimica Et Biophysica Acta·R J Kassner, H Walchak
Jan 1, 1971·The Journal of Clinical Investigation·P ScholnickR Schmid
Jan 1, 1971·The British Journal of Dermatology·E M DonaldsonT Hargreaves
Mar 1, 1968·Journal of Clinical Pathology·H D BarnesJ H Millar
Feb 1, 1959·Biochimica Et Biophysica Acta·G NISHIDA, R F LABBE
Jul 1, 1960·Biochimica Et Biophysica Acta·R F LABBE, N HUBBARD

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Citations

Jul 1, 1996·Liver Transplantation and Surgery : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·J R BloomerR L Carithers
Dec 1, 1977·Biochemical Genetics·D A Brenner, J R Bloomer
Apr 1, 1995·Journal of Bioenergetics and Biomembranes·S Taketani, H Fujita
Jan 3, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·A F De GoeijJ V Steveninck
Jan 2, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·N J VerhoefB Leijnse
Mar 19, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·S Sandberg
Jul 30, 1993·Clinica Chimica Acta; International Journal of Clinical Chemistry·J T Hindmarsh
Jan 1, 1978·The International Journal of Biochemistry·A Gajdos, M Gajdos-Török
Jan 1, 1980·The International Journal of Biochemistry·S Kramer, J D Viljoen
Jan 1, 1980·The International Journal of Biochemistry·A V PasanenR Tenhunen
Jan 1, 1991·The International Journal of Biochemistry·M C Ríos de MolinaL C San Martín de Viale
Feb 1, 1996·Journal of Dermatological Science·A TakamiyagiS Nonaka
Oct 22, 2003·Molecular Genetics and Metabolism·Hiba RishegJoseph R Bloomer
Jun 1, 1989·Clinical Biochemistry·M O Doss, M Frank
Apr 29, 1998·Clinics in Dermatology·M B Poh-Fitzpatrick
Oct 7, 2011·International Journal of Impotence Research·X Jiang, K Chitaley
Jul 14, 1977·The New England Journal of Medicine·M M Mathews-Roth
Aug 10, 1978·The New England Journal of Medicine·G H ElderJ A Tovey
Apr 3, 1980·The New England Journal of Medicine·D A Brenner, J R Bloomer
Feb 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·D A Brenner, F Frasier
Jan 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·Y NakahashiS Sassa
Nov 1, 1996·Journal of Pediatric Gastroenterology and Nutrition·C PotterJ Bloomer
Mar 11, 2005·Journal of Clinical Gastroenterology·Joseph BloomerHiba Risheg
Jul 5, 2006·Journal of Pediatric Gastroenterology and Nutrition·Joseph R BloomerHiba Risheg
Jun 1, 1977·British Journal of Haematology·D M BeckerS Kramer
Dec 1, 1977·British Journal of Haematology·S KramerJ D Viljoen
Dec 1, 1978·British Journal of Haematology·B C CampbellA Goldberg
Dec 1, 1977·Clinical and Experimental Dermatology·M J BrodieG Holti
Sep 1, 1980·The Journal of Clinical Investigation·I GigliM A Pathak
Feb 1, 1981·The Journal of Clinical Investigation·D L AvnerM M Berenson
Oct 1, 1983·The Journal of Clinical Investigation·M B Poh-FitzpatrickJ H Lefkowitch
Jul 3, 1998·The Journal of Clinical Investigation·J BloomerD Brenner

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