Oxidative and chromosomal DNA damage in patients with type I Gaucher disease and carriers

Background and aims: Gaucher disease (GD) is caused by a genetic deficiency of the beta-glucocerebrosidase enzyme which results in the accumulation of glucosylceramide in macrophages. This accumulation may induce oxidative stress, resulting in DNA damage in patients with GD. The aim of this study was to assess plasma 8-hydroxy-2 '-deoxyguanosine (8-OHdG) levels and cytokinesis-block micronucleus cytome (CBMN-cyt) assay parameters in the peripheral blood lymphocytes of patients with GD and carriers, evaluate the possible associ-ations of these values with GD, and determine whether they can be used as potential biomarkers in GD.Methods: This study included 20 patients with type 1 GD, six carriers, and 27 age-and sex-matched healthy controls. CBMN-cyt assay parameters in peripheral blood lymphocytes of the patients with GD, carriers, and controls were evaluated and 8-OHdG levels in their plasma samples were measured.Results: CBMN-cyt assay parameters in patients with GD and carriers were not significantly different when compared with controls (p > 0.05). However, plasma 8-OHdG levels were found to be higher in both patients with GD and carriers than in control subjects (p < 0.01). Conclusions: Oxidative DNA damage may be a useful prognostic tool, whereas the CBMN-cyt assay cannot be used as a predictive biomarker of GD.

Automated summary

This study evaluated plasma 8-hydroxy-2'-deoxyguanosine (8-OHdG) levels and cytokinesis-block micronucleus cytome (CBMN-cyt) assay parameters in patients with Gaucher disease (GD) and carriers. The results showed that CBMN-cyt assay parameters were not significantly different between patients with GD and carriers compared to controls, but plasma 8-OHdG levels were higher in both patients with GD and carriers.