PEDIATRICS · 1977 · 192 citations · 0 references
Life SciencesCell BiologyGeneticsCell ProliferationDna RepairHuman GeneticsBiological Effects Of RadiationCellular Radiation ResponseDna Repair DefectsRadiation SensitivityUltraviolet Radiation BiologyColony-forming Unit AssaysDwarfism SyndromesFibroblast CultureLight-induced DamageRepair Of Uv-induced Dna DamageSensitivityUltraviolet Radiation DamageUltraviolet-induced Dna Damage
Two unrelated children, a boy 2 1/2 years old and a girl 4 years old, were affected with the cachectic dwarfism of Cockayne syndrome. Fibroblast cultures derived from these patients exhibited increased sensitivity to ultraviolet (UV) light, but not to x-irradiation, as measured by colony-forming ability. In both Cockayne fibroblast cultures, the rate of removal of thymidine dimer from the irradiated cellular DNA was normal. This demonstration of a cellular defect in Cockayne cells suggests that there may be an enzymatic defect in the repair of UV light-induced damage.