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7. Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene

Author

Remenyik, Éva, Lecha, M., Badenas, C., Kószó, Ferenc, Vass, V., Herrero, C., To-Figueras, J., Varga, Viktória, Emri, Gabriella, Balogh, A., and Horkay, Irén

Subjects
Adult, Male, Porphyria Cutanea Tarda, Hypertrichosis, Heterozygote, medicine.medical_specialty, Adolescent, Uroporphyrinogen III decarboxylase, Hepatitis C virus, DNA Mutational Analysis, Mutation, Missense, Dermatology, Klinikai orvostudományok, medicine.disease_cause, Compound heterozygosity, Internal medicine, medicine, Humans, Uroporphyrinogen Decarboxylase, Missense mutation, Child, Mutation, business.industry, Orvostudományok, medicine.disease, Hyperpigmentation, Pedigree, Endocrinology, Porphyria, Female, medicine.symptom, business
Abstract

Summary Three children (two boys and one girl) from the same family presented with photosensitivity, hyperpigmentation, hypertrichosis, mild skin fragility, blistering and scarring in childhood. On examination, the cutaneous lesions were found to have improved since their previous examinations. Laboratory tests showed raised plasma and urine carboxyporphyrins and decreased uroporphyrinogen decarboxylase enzyme activity in red blood cells. Triggering factors for porphyria were not detected except for a hepatitis C virus infection in the younger boy. The girl's clinical symptoms recurred in late adolescence, after iron and oestrogen treatments. Mutation analysis of the UROD gene detected two missense mutations, 19 AG M1V (novel) and 703CT P235S (previously reported), in an uncommon compound heterozygous manner in the three siblings.

Published
2008
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8. Identification of Cyclobutane Pyrimidine Dimer-Responsive Genes Using UVB-Irradiated Human Keratinocytes Transfected with In Vitro-Synthesized Photolyase mRNA.

Author

Boros, Gábor, Miko, Edit, Muramatsu, Hiromi, Weissman, Drew, Emri, Eszter, van der Horst, Gijsbertus T. J., Szegedi, Andrea, Horkay, Irén, Emri, Gabriella, Karikó, Katalin, and Remenyik, Éva

Subjects
KERATINOCYTES, CYCLOBUTANE, PYRIMIDINES, PHYSIOLOGICAL effects of ultraviolet radiation, LYASES, MESSENGER RNA, BIOSYNTHESIS
Abstract

Major biological effects of UVB are attributed to cyclobutane pyrimidine dimers (CPDs), the most common photolesions formed on DNA. To investigate the contribution of CPDs to UVB-induced changes of gene expression, a model system was established by transfecting keratinocytes with pseudouridine-modified mRNA (Ψ-mRNA) encoding CPD-photolyase. Microarray analyses of this model system demonstrated that more than 50% of the gene expression altered by UVB was mediated by CPD photolesions. Functional classification of the gene targets revealed strong effects of CPDs on the regulation of the cell cycle and transcriptional machineries. To confirm the microarray data, cell cycle-regulatory genes, CCNE1 and CDKN2B that were induced exclusively by CPDs were selected for further investigation. Following UVB irradiation, expression of these genes increased significantly at both mRNA and protein levels, but not in cells transfected with CPD-photolyase Ψ-mRNA and exposed to photoreactivating light. Treatment of cells with inhibitors of c-Jun N-terminal kinase (JNK) blocked the UVB-dependent upregulation of both genes suggesting a role for JNK in relaying the signal of UVB-induced CPDs into transcriptional responses. Thus, photolyase mRNA-based experimental platform demonstrates CPD-dependent and -independent events of UVB-induced cellular responses, and, as such, has the potential to identify novel molecular targets for treatment of UVB-mediated skin diseases. [ABSTRACT FROM AUTHOR]

Published
2015
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