Genomic instability in patients with autosomal-dominant polycystic kidney disease

OBJECTIVE: Autosomal-dominant polycystic kidney disease (ADPKD) is a systemic disorder affecting multiple organs that results in renal and extrarenal cysts. Patients with ADPKD may have genomic instability, making them more vulnerable to developing cancer. This study aimed to investigate latent genomic instability in patients with ADPKD, using single-cell gel electrophoresis (comet assay). METHODS: The susceptibility of peripheral blood lymphocytes to DNA damage induced by X-ray treatment (0.5 Gy) was tested in 20 patients with ADPKD using single-cell gel electrophoresis. The percentage of DNA in the comet tail (TDNA%) before and after irradiation was compared between patients with ADPKD and 20 sex- and age-matched healthy control subjects. RESULTS: Renal and extrarenal cysts were observed in patients with ADPKD. A significantly higher mean TDNA% was determined in patients with ADPKD compared with control subjects (8.85% versus 7.50%). After in vitro irradiation, DNA damage was significantly increased in all participants, but the increase was significantly greater in patients with ADPKD compared with control subjects. CONCLUSION: These data suggest that patients with ADPKD have genomic instability, which may trigger renal and extrarenal cyst formation.