Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria

Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria

Exposure to light precipitates the symptoms of several genetic disorders that affect both skin and internal organs. It is presumed that damage to non-cutaneous organs is initiated indirectly by light, but this is difficult to study in mammals. Zebrafish have an essentially transparent periderm for the first days of development. In a previous large-scale genetic screen we isolated a mutation, dr...

A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria.

We investigated the molecular defect of the ferrochelatase gene in a Japanese patient with erythropoietic protoporphyria (EPP), and identified a novel 16 base pair (574-589) deletion within exon 5. This deletion resulted in a frame-shift mutation and created a premature stop codon at amino acid position 198. The same molecular defect was also identified in his mother and a brother who had sympt...

Modelling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice

Erythropoietic Protoporphyria (EPP) is caused by deficiency of ferrochelatase (FECH) which incorporates iron into protoporphyrin IX (PPIX) to form heme. Excitation of accumulated PPIX by light generates oxygen radicals which evoke excessive pain and, after longer light exposure, ulcerations in exposed skin areas of EPP patients. Moreover, ~5% of the patients develop a liver dysfunction due to P...

Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.

Ferrochelatase (E.C. 4.99.1.1), the enzyme that catalyzes the terminal step in the heme biosynthetic pathway, is the site of defect in the human inherited disease erythropoietic protoporphyria (EPP). Previously it has been demonstrated that patients with EPP may have missense mutations leading to amino acid substitutions, early chain termination, or exon deletions. While it has been clearly dem...

Protoporphyria Examination of Ferrochelatase Mutations That Cause Erythropoietic