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The histamine pathway is a target to treat hepatic experimental erythropoietic protoporphyria.
Cell Mol Gastroenterol Hepatol
January 2025
Center for Advanced Biotechnology and Medicine, Rutgers University, Piscataway, NJ, USA. Electronic address:
Background & Aims: Erythropoietic protoporphyria (EPP) is caused by mutations in ferrochelatase which inserts iron into protoporphyrin-IX (PP-IX) to generate heme. EPP is characterized by PP-IX accumulation, skin photosensitivity, cholestasis, and end-stage liver disease. Despite available drugs that address photosensitivity, treatment of EPP-related liver disease remains an unmet need.
View Article and Find Full Text PDFInhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria.
Nat Commun
December 2024
Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA, USA.
Article Synopsis
- Erythropoietic protoporphyria (EPP) is a genetic disorder that causes painful skin reactions when exposed to light, with few treatment options available.
- Researchers developed oral inhibitors of the ABCG2 transporter, which helps remove protoporphyrin IX from cells, as a new therapeutic approach.
- In a mouse model of EPP, these inhibitors were successful in reducing protoporphyrin IX levels and preventing phototoxic reactions, offering a promising new treatment strategy.
Needle-like red cell inclusions in congenital erythropoietic porphyria.
Br J Haematol
January 2025
Hematology Department, Hospital Universitario La Paz, Madrid, Spain.
CRISPR/Cas9-Mediated Knockout Zebrafish: Unraveling the Pathogenesis of Erythropoietic Protoporphyria and Facilitating Drug Screening.
Int J Mol Sci
October 2024
Department of Marine Life Sciences & Center for Genomic Selection in Korean Aquaculture, Jeju National University, Jeju 63243, Republic of Korea.
Erythropoietic protoporphyria (EPP1) results in painful photosensitivity and severe liver damage in humans due to the accumulation of fluorescent protoporphyrin IX (PPIX). While zebrafish () models for porphyria exist, the utility of ferrochelatase () knockout zebrafish, which exhibit EPP, for therapeutic screening and biological studies remains unexplored. This study investigated the use of clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9-mediated -knockout zebrafish larvae as a model of EPP1 for drug screening.
View Article and Find Full Text PDFThe impact of minimal sunlight exposure on bone health: insights from a cohort study in erythropoietic protoporphyria.
J Clin Endocrinol Metab
October 2024
Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherland.
Article Synopsis
- Erythropoietic protoporphyria (EPP) is an inherited metabolic disease that leads to painful reactions to sunlight and increased risk of osteoporosis due to low bone mineral density (BMD) and vitamin D deficiency.
- A study on EPP patients revealed that a significant majority had low BMD, with 39.5% classified as osteopenic and 15.3% as osteoporotic, alongside a high incidence of related fractures.
- The findings highlight the importance of maintaining adequate vitamin D levels for improving BMD, while treatments like afamelanotide did not show effectiveness.
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