Direct sequencing of the PCR-amplified fragment containing exon 5 revealed a missense mutation, T545G, which led to the conversion of Leu-182 to Arg in ferrochelatase.
Ferrochelatase activity of the mutant in the crude bacterial cell extracts was 0.
As discussed earlier, two SNPs in the ferrochelatase gene, namely, -251A/G in the promoter region and -23C/T in intron 1, play a role in the pathogenesis of EPP (4).
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
An important exception to these ratios occurs with protoporphyria, in which an inherited ferrochelatase deficiency leads to a massive overproduction and accumulation of EP (11).
The common perception that lead also inhibits ferrochelatase is not entirely accurate; in vitro lead binds to the sulfhydryl groups of ferrochelatase, but in vivo the inhibition evidently occurs only during extreme, acute toxicity (105).
at the millennium: structures, mechanisms and [2Fe-S] clusters.
First, there was no association of expression profile of these genes with pathologic change, and second, by comparison with the gene expression profile of a mutant mouse model of ferrochelatase insufficiency (Tutois et al.
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.
In patient B, erythrocyte PBGD, uroporphyrinogen-III synthase, and uroporphyrinogen decarboxylase as well as lymphocyte coproporphyrinogen oxidase, protoporphyrinogen oxidase, and ferrochelatase activities were additionally examined; all were within reference values.
Ferrochelatase in human erythropoietic protoporphyria: the first case of a homozygous form of the enzyme deficiency.