Publication: Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice
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Barman-Aksözen, J., Cwiek, P., Bansode, V. B., Koentgen, F., Truöb, J., Pelczar, P., Cinelli, P., Schneider-Yin, X., Schümperli, D., & Minder, E. I. (2017). Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. Disease Models & Mechanisms, 10(3), 225–233. https://doi.org/10.1242/dmm.027755
Abstract
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Abstract
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 that evoke excessive pain and, after longer light exposure, cause ulcerations in exposed skin areas of individuals with EPP. Moreover, ∼5% of the patients develop a liver dysfunction as a result of PPIX accumulation. Most patients (∼97%) have a severe FECH mutation (Mut) in trans to an intronic polymorphism (c.315-48C)
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- Barman-Aksözen, Jasmin
- Cwiek, Paulina
- Bansode, Vijay B
- Koentgen, Frank
- Truöb, Judith
- Pelczar, Pawel
- Cinelli, Paolo
- Schneider-Yin, Xiaoye
- Schümperli, Daniel
- Minder, Elisabeth I
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Barman-Aksözen, J., Cwiek, P., Bansode, V. B., Koentgen, F., Truöb, J., Pelczar, P., Cinelli, P., Schneider-Yin, X., Schümperli, D., & Minder, E. I. (2017). Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. Disease Models & Mechanisms, 10(3), 225–233. https://doi.org/10.1242/dmm.027755
