Advances in Porphyria and Liver Disease Research
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".
Deadline for manuscript submissions: 31 October 2026 | Viewed by 30
Special Issue Editor
Special Issue Information
Dear Colleagues,
Many diseases have a major genetic contribution but require interaction with other traits and factors for clinical symptoms. Porphyrias are disorders of heme biosynthesis in which the activity of the enzymes in the pathway is compromised, mostly by pathogenic gene variants. Accumulating intermediates or their oxidation products (porphyrins) can be toxic, and depending on their main source, the porphyrias are either erythropoietic or hepatic, leading to neurovisceral attacks, liver injury, or cutaneous phototoxicity. Although the enzyme variants are well described clinically and characterised at the gene- and protein-levels, inheritance is not predictive of eventual disease (low penetrance) and can be dependent on other genetic traits or factors like physiology, iron metabolism, diet, alcohol, and medication, which are not fully understood. The most common porphyria, sporadic porphyria cutanea tarda, is not associated with a heme-pathogenic variant but is the consequence of the hepatic interaction of other traits and triggering agents. In addition, some chemicals, drugs and herbicides cause similar disorders in humans and in experimental models, implicating common underlying mechanisms and susceptibilities. Further understanding of these is required to clarify reasons for susceptibility, treatment, and preclinical drug research that may be important in wider metabolic landscapes of liver disease.
Dr. Andrew G. Smith
Guest Editor
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Keywords
- porphyria
- liver disease
- heme
- mechanisms
- susceptibilities
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