Erythropoietic, i.e., myelogenous porphyrias include erythropoietic protoporphyria and the very rare congenital protoporphyria and X-linked protoporphyria. Of these, in Finland only erythropoietic protoporphyria has been diagnosed, in which pain and swelling in the skin upon sunlight exposure are the most typical symptoms. A high protoporphyrin level in erythrocytes and a typical peak in the plasma porphyrin spectrum lead to diagnosis.
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Ital J Pediatr
December 2024
Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.
J Med Chem
December 2024
Research Division, Mitsubishi Tanabe Pharma Corporation, 1000 Kamoshida-cho, Aoba-ku, Yokohama 227-0033, Japan.
Activation of the melanocortin 1 receptor (MC1R) mediates melanogenesis in melanocytes, anti-inflammatory effects in inflammatory cells, and antifibrotic effects in fibroblasts. Thus, MC1R agonists are expected to be beneficial for treating skin, autoimmune, inflammatory, and fibrotic diseases. Afamelanotide, an α-melanocyte-stimulating hormone (α-MSH) analogue MC1R agonist, is used clinically for treating erythropoietic protoporphyria (EPP) as a subcutaneous implant formulation.
View Article and Find Full Text PDFNat Commun
December 2024
Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA, USA.
Erythropoietic protoporphyria (EPP) is a genetic disease characterized by protoporphyrin IX-mediated painful phototoxicity. Currently, options for the management of EPP-associated phototoxicity are limited and no oral medication is available. Here, we investigated a novel therapy against EPP-associated phototoxicity by targeting the ATP-binding cassette subfamily G member 2 (ABCG2), the efflux transporter of protoporphyrin IX.
View Article and Find Full Text PDFLife Sci
January 2025
Tanta University, Faculty of Pharmacy, Department of Biochemistry, Tanta Postal Code: 31527, Egypt. Electronic address:
All biological systems have adenosine triphosphate (ATP) binding cassette (ABC) transporters, one of the significant protein superfamilies involved in transport across membranes. ABC transporters have been implicated in the etiology of diseases like metabolic disorders, cancer, and Alzheimer's disease. ATP-binding cassette superfamily G member 2 (ABCG2), one of the ABC transporters, is necessary for the ATP-dependent efflux of several endogenous and exogenous substances.
View Article and Find Full Text PDFInt 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.
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