DNA Repair and Skin Disease
Along with replication and transcription, DNA repair should be considered as a normal cellular process. In addition to cellular differentiation, DNA repair may be affected by inborn errors and by exogenous effects as well. In terminally differentiating structures such as epidermis, an alteration of DNA repair entails decrease of activity or retardation of repair processes leading to cytotoxic, mutagenic and oncogenic events under exogenous hazards (such as UV, chemicals, X-ray etc.). Fibroblasts show the UV-induced defect like that in cultured keratinocytes (Kondo). Atrophy, dyspigmentation and tumors are the epidermal endpoints of these events whereas actinic elastosis appears on the dermal level. The heterogenous group of xeroderma pigmentosum (XP) is the best-known and most well-investigated model of a congenital defect of DNA repair and its devasting effects on the skin after UV irradiation. XP is observed in all continents and races. Nevertheless, there are regional differences between the nine subgroups of classical XP A-I and the variant type.
KeywordsEurope Anemia Adduct Pyrimidine Thymidine
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