NDLI: The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.

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The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.

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The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Fujita, H. Ishida, N. Taketani, S. Nakahashi, Y. Sassa, S. Kappas, A.
Description	Author Affiliation: Nakahashi Y ( Department of Hygiene, Kansai Medical University, Osaka, Japan.);
Abstract	The molecular basis of an inherited defect of ferrochelatase in a patient with erythropoietic protoporphyria (EPP) was investigated. Ferrochelatase is the terminal enzyme in the heme biosynthetic pathway and catalyzes the insertion of ferrous iron into protoporphyrin IX to form heme. In Epstein-Barr virus-transformed lymphoblastoid cells from a proband with EPP, enzyme activity, an immunochemically quantifiable protein, and mRNA content of ferrochelatase were about one-half the normal level. In contrast, the rate of transcription of ferrochelatase mRNA in the proband's cells was normal, suggesting that decreased ferrochelatase mRNA is due to an unstable transcript. cDNA clones encoding ferrochelatase in the proband, isolated by amplification using the polymerase chain reaction, were found to be classified either into those encoding the normal protein or into those encoding an abnormal protein that lacked exon 2 of the ferrochelatase gene, indicating that the proband is heterozygous for the ferrochelatase defect. Genomic DNA analysis revealed that the abnormal allele had a point mutation, C----T, near the acceptor site of intron 1. This point mutation appears to be responsible for the post-transcriptional splicing abnormality resulting in an aberrant transcript of ferrochelatase in this patient.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	1
Volume Number	89
Language	English
Publisher	National Academy of Sciences
Publisher Date	1992-02-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Ferrochelatase Genetics Porphyrias Amino Acid Sequence Blotting, Southern Cloning, Molecular DNA Mutational Analysis Erythropoiesis Gene Expression Genes Molecular Sequence Data Oligodeoxyribonucleotides Chemistry Polymerase Chain Reaction RNA Splicing RNA, Messenger Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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