Monitoring of molecular and cytogenetic damage in lymphocytes from three persons with polycystic kidney disease

Background, Much interest has been generated in the studies that would help to understand whether there is a causal association between disease and va rious types of molecular or cytogenetic damage detected in human cells. Materials and Methods. The aims of this study were to elicit the possible a ssociation between DNA and cytogenetic damage induced in lymphocytes of thr ee members of a family with autosomal dominant polycystic kidney disease (A DPKD). The predictability to develop cancer or to sensitive response to env ironmental exposure of the young girl at the age of 19, her brother (9 year s old) and a maternal aunt at the age of 41 were sought. Cytogenetic studie s, analysis of DNA damage by single cell gel electrophoresis assay (SCGE kn own as a Comet assay), and analysis of p21ras protein level in blood plasma were carried out on their lymphocytes. Results, The analysis for presence of chromosome aberrations in the first m itosis and sister chromatid exchanges in the second mitosis revealed elevat ed levels of cytogenetic biomarkers when compared to the mean values observ ed in the reference group in environmental biological monitoring studies. R esults of sister chromatid exchanges (SCE) and percent of cells with elevat ed number of exchanges (high frequency cells) that were significantly highe r in two probands had demonstrated susceptibility to or possibility of envi ronmental exposure (pesticides, smoking). The results of this study show th at the lymphocytes of two persons revealed increased sensitivity to 0.5 Gy dose of gamma radiation expressed in the increased, although statistically insignificant, damage detected on the molecular level after cell irradiatio n. Conclusions, The latter might be associated with a specific aberration pres ent in the cells of these persons. But final conclusions can be arrived at when an application of FISH technique is completed. (C) 1999 IMSS. Publishe d by Elsevier Science inc.