Studies in porphyria. Functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythrocyte protoporphyria

S. Sassa, G. L. Zalar, M. B. Poh-Fitzpatrick, Karl Anderson, A. Kappas

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Abstract

In this paper we show that the ferrochelatase defect in erythropoietic protoporphyria (EPP) can readily be identified in mitogen-stimulated lymphocytes since such cells from patients with EPP accumulate approximately twice as much protoporphyrin IX as cells from normal subjects when incubated with a porphyrin precursor, β-aminolevulinic acid (ALA). Treatment of cultures with ALA and with the iron chelator, CaMgEDTA significantly increased the level of protoporphyrin IX in mitogen-stimulated lymphocytes from normal subjects, which the same treatment failed to produce an increase in protoporphyrin IX in cell preparations from EPP patients. In contrast to the results with the chelator treatment, supplementation of the cultures with iron and ALA reduced the level of protoporphyrin IX in normal cells, but not in EPP cells. These findings are compatible with a partial deficiency of ferrochelatase in EPP lymphocytes. The gene defects of acute intermittent porphyria and hereditary coproporphyria have previously been identified using lymphocyte preparations from the gene carriers of these diseases. The present study demonstrates that EPP represents another form of human porphyria in which the gene defect of the disease can now be identified in lymphocyte preparations.

Original languageEnglish (US)
Pages (from-to)809-815
Number of pages7
JournalJournal of Clinical Investigation
Volume69
Issue number4
StatePublished - 1982
Externally publishedYes

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Erythropoietic Protoporphyria
Porphyrias
Mitogens
Erythrocytes
Lymphocytes
Aminolevulinic Acid
Chelating Agents
Hereditary Coproporphyria
Iron
Ferrochelatase
Genes
Acute Intermittent Porphyria
Porphyrins
Therapeutics
protoporphyrin IX

ASJC Scopus subject areas

  • Medicine(all)

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Studies in porphyria. Functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythrocyte protoporphyria. / Sassa, S.; Zalar, G. L.; Poh-Fitzpatrick, M. B.; Anderson, Karl; Kappas, A.

In: Journal of Clinical Investigation, Vol. 69, No. 4, 1982, p. 809-815.

Research output: Contribution to journalArticle

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