Background Down syndrome is one of the commonest numerical chromosomal aberrations. Recent studies showed that oxidative stress is an important pathological factor in Down syndrome.
Objective To estimate the level of oxidative stress and DNA damage in Down syndrome patients.
Patients and methods: Fifteen Egyptian patients clinically diagnosed and cytogenetically proven to have Down syndrome. Fifteen Egyptian healthy controls were recruited from the outpatient clinic of Clinical Genetics Department, National Research Centre. Oxidative stress parameters including total antioxidant capacity (TAC), Superoxide dismutase (SOD) enzyme activity and Malondialdehyde (MDA) biomarkers were estimated. DNA damage was determined using the alkaline comet assay.
Results The MDA and SOD levels in Down syndrome patients were significantly higher than control group (p=0.000 & 0.01, respectively). Total antioxidants levels were non-significantly higher than control group (p=0.54). Statistical analysis of DNA damage levels in DS patients compared to controls showed significant increased levels (p=0.000). There was a positive correlation of DNA damage levels with age in DS patients but not reaching a significant value (p=0.536). A non-significant positive correlation was detected between DNA damage levels and both MDA and TAC levels (p=0.8 & 0.37, respectively). Also a non-significant negative correlation of DNA damage levels with SOD levels was noticed (p=0.14).
Conclusion Oxidative stress plays a major role in DS pathogenesis.
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