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 various types of molecular or cytogenetic damage detected in human cells.

MATERIALS AND METHODS

The aims of this study were to elicit the possible association between DNA and cytogenetic damage induced in lymphocytes of three members of a family with autosomal dominant polycystic kidney disease (ADPKD). The predictability to develop cancer or to sensitive response to environmental exposure of the young girl at the age of 19, her brother (9 years old) and a maternal aunt at the age of 41 were sought. Cytogenetic studies, analysis of DNA damage by single cell gel electrophoresis assay (SCGE known 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 mitosis and sister chromatid exchanges in the second mitosis revealed elevated levels of cytogenetic biomarkers when compared to the mean values observed in the reference group in environmental biological monitoring studies. Results of sister chromatid exchanges (SCE) and percent of cells with elevated number of exchanges (high frequency cells) that were significantly higher in two probands had demonstrated susceptibility to or possibility of environmental exposure (pesticides, smoking). The results of this study show that 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 irradiation.

CONCLUSIONS

The latter might be associated with a specific aberration present in the cells of these persons. But final conclusions can be arrived at when an application of FISH technique is completed.