Molecular defect in human erythropoietic protoporphyria with fatal liver failure

@article{Nakahashi2004MolecularDI,
  title={Molecular defect in human erythropoietic protoporphyria with fatal liver failure},
  author={Yoshitsugu Nakahashi and Hiroaki Miyazaki and Yoichi Kadota and Yuji Naitoh and Kyoichi Inoue and Masayuki Yamamoto and Norio Hayashi and Shigeru Taketani},
  journal={Human Genetics},
  year={2004},
  volume={91},
  pages={303-306}
}
We investigated the molecular basis of ferrochelatase in a Japanese patient with erythropoietic protoporphyria (EPP), complicated by fatal liver failure, and defined a novel point mutation in the ferrochelatase gene. cDNAs were synthesized using Epstein-Barr-virus-transformed lymphoblastoid cells from the proband. cDNA clones encoding ferrochelatase in the proband were isolated by amplification using the polymerase chain reaction. There were two sizes of ferrochelatase cDNAs; one was normal in… Expand
Molecular defects in erythropoietic protoporphyria with terminal liver failure
TLDR
Two new genotypes of EPP are presented, including one with liver failure, a rare and fatal form of E PP, and two new mutations in the ferrochelatase gene are identified in two Swiss patients with erythropoietic protoporphyria. Expand
Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing
TLDR
To define the molecular defect in two EPP-affected siblings and their parents in a Swiss family, ferrochelatase cDNA was amplified by the polymerase chain reaction (PCR) and subjected to sequence analysis, revealing autosomal dominant inheritance associated with abnormal protoporphyrin concentration and enzyme activity. Expand
Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria
TLDR
The FECHgene was analyzed in eight Japanese EPP patients from seven non‐consanguineous families and found two distinct genomic DNA abnormalities and intron polymorphism at IVS3‐48, known to be associated with the phenotypic expression of EPP, in these eight patients and 152 healthy Japanese volunteers. Expand
Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.
TLDR
Results suggest that whereas the combination of a maternal IVS9+1a allele and a paternal IVS3-48c allele results in overt EPP, CpG methylation of the FECH gene promoter increases the severity of E PP, leading to fatal liver failure, as seen in the proband. Expand
Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.
TLDR
Rec recombinant human ferrochelatase has been engineered to have individual exon deletions corresponding to exons 3 through 11, and one of the human missense mutations, F417S, and a series of amino acid replacements at this site were examined. Expand
Erythropoietic protoporphyria
  • T. Cox
  • Medicine
  • Journal of Inherited Metabolic Disease
  • 2004
TLDR
The recent development of simple assays for ferrochelatase activity and cloning of the human ferroChelatase gene promises to shed light on the transmission of this disorder and may allow clinical expression of disease to be predicted. Expand
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice.
TLDR
It is suggested that oral iron therapy is not the therapy of choice for patients with EPP and that the PPIX-liver transferrin pathway plays a role in the orchestration of iron distribution between peripheral iron stores, the spleen, and the bone marrow. Expand
Erythropoietic protoporphyria
  • D. Todd
  • Medicine
  • The British journal of dermatology
  • 1994
Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the haem biosyntheticExpand
Protoporphyria Examination of Ferrochelatase Mutations That Cause Erythropoietic
http://bloodjournal.hematologylibrary.org/content/91/10/3980.full.html Updated information and services can be found at: (1174 articles) Red Cells • Articles on similar topics can be found in theExpand

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