Disease relevance of Protoporphyria, Erythropoietic

• Here we report the essential role of HRI in 2 mouse models of human rbc disorders, namely erythropoietic protoporphyria (EPP) and beta-thalassemia [1].
• Defects in the human FECH gene may lead to erythropoietic protoporphyria (EPP), a rare inherited disorder characterized by diminished FECH activity with protoporphyrin overproduction and subsequent skin photosensitivity and in rare cases liver failure [2].
• Liver cirrhosis in erythropoietic protoporphyria: improvement of liver function with ursodeoxycholic acid [3].
• In a group of 19 subjects suffering from erythropoietic protoporphyria the administration of beta-carotene appeared to produce improvement based on a subjective assessment of alterations in exposure times required to produce the symptoms and signs of the condition [4].
• These results suggest that, in addition to efficacy in the treatment of acute intermittent porphyria (AIP) and erythropoietic protoporphyria (EPP), cimetidine is effective in the treatment of PCT [5].

High impact information on Protoporphyria, Erythropoietic

• Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis caused by a partial deficiency of ferrochelatase (FECH, EC 4.99.1.1) [6].
• Erythropoietic protoporphyria is a genetic disease in which ferrochelatase is defective [7].
• Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of ferrochelatase (FECH) [8].
• Erythropoietic protoporphyria (EPP; MIM 177000) is an inherited disorder caused by partial deficiency of ferrochelatase (FECH), the last enzyme in the heme biosynthetic pathway [9].
• Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2 [10].

Chemical compound and disease context of Protoporphyria, Erythropoietic

• Photoprotection in erythropoietic protoporphyria: mechanism of photoprotection by beta carotene [11].
• Human erythropoietic protoporphyria is an inherited disorder of the heme metabolic pathway caused by defects in the gene for ferrochelatase, the terminal enzyme of the pathway that catalyzes chelation of ferrous iron into protoporphyrin IX to form heme [12].
• Carotenoid pigments and the treatment of erythropoietic protoporphyria [13].
• Cimetidine in erythropoietic protoporphyria [14].
• Relief of the photosensitivity of erythropoietic protoporphyria by pyridoxine [15].

Biological context of Protoporphyria, Erythropoietic

• These mutations have been present in the Swiss erythropoietic protoporphyria population for a relatively long time as no common haplotypes of microsatellite markers flanking the ferrochelatase gene were found, except of two conserved regions, telomeric of the insT213 allele and centromeric of the delTACAG(580-584)allele, each with a size > 3 cM [16].
• Point-mutations in the ferrochelatase gene have been recently found to be associated with certain cases of erythropoietic protoporphyria [17].

Anatomical context of Protoporphyria, Erythropoietic

• BACKGROUND & AIMS: Reduced activity of ferrochelatase in erythropoietic protoporphyria (EPP) results in protoporphyrin (PP) accumulation in erythrocytes and liver [18].
• Immunofluorescence staining of exposed skin from patients with erythropoietic protoporphyria (EPP) with antibodies to serum amyloid P component (SAP) and to fibronectin produced striking fluorescence of abnormal vascular structures in the upper dermis [19].
• In a group of ten patients with erythropoietic protoporphyria the biosynthesis of porphyrins from delta-aminolevulinic acid and from glycine-succinic acid appeared to be normal in peripheral blood cells [20].

Gene context of Protoporphyria, Erythropoietic

• Taken together, our results demonstrate that ABCG2 plays a role in regulating PPIX levels during erythroid differentiation and suggest a potential role for ABCG2 as a genetic determinant in erythropoietic protoporphyria [21].
• BALB/c Fech(m1Pas) mice have a mutated ferrochelatase gene resulting in protoporphyria that models the hepatic injury occurring sporadically in human erythropoietic protoporphyria [22].
• The existence of the ferrochelatase pseudogene has practical implications for the molecular analysis of mutations responsible for erythropoietic protoporphyria in man [23].
• Mutations in the human gene for ferrochelatase can result in the disease erythropoietic protoporphyria, and a further understanding of the mechanism of this enzyme is therefore of clinical interest [24].
• Mdr P-glycoproteins are not essential for biliary excretion of the hydrophobic heme precursor protoporphyrin in a griseofulvin-induced mouse model of erythropoietic protoporphyria [25].

Analytical, diagnostic and therapeutic context of Protoporphyria, Erythropoietic

• The ferrochelatase deficiency mouse mutation is the best animal model available for human erythropoietic protoporphyria [26].

References