Abstract
Summary: Utilizing six age-matched human fibroblast cell strains (three normal and three Down's syndrome) cytotoxicity, DNA repair, and X-ray mutagenesis were measured. There was no significant difference in the colony-forming ability after ultraviolet (UV) or X-irradiation between normal and Down's fibroblasts. Similarly, UV-induced unscheduled DNA synthesis was not significantly different between normal and Down's cells. Finally, a comparison between the spontaneous and X-ray induced mutation frequency at the hypoxanthine-guanine phosphoribosyl transferase locus demonstrated no difference between the two cell types (normal and Down's).
Speculation: Down's syndrome has long been recognized as a cancer-prone human syndrome. Chromosomal radiosensitivity indicated the possibility of faulty DNA repair leading to the accumulation of somatic mutations. Because no biologic differences were detected in fibroblasts, the predisposition to cancer (especially leukemia) in Down's syndrome might be due to abnormal DNA repair in the white blood cells of these individuals.
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Yotti, L., Glover, T., Trosko, J. et al. Comparative Study of X-Ray and UV Induced Cytotoxicity, DNA Repair, and Mutagenesis in Down's Syndrome and Normal Fibroblasts. Pediatr Res 14, 88–92 (1980). https://doi.org/10.1203/00006450-198002000-00003
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DOI: https://doi.org/10.1203/00006450-198002000-00003
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