Konjenital glikozilasyon bozukluklarında hücresel oksidatif hasar

Abstract

BACKGROUND: Congenital disorders of glycosylation (CDG) are genetic diseases caused by defectiveglycosylation of glycoproteins and glycolipids. Oxidative stress is caused by an imbalance between theproduction of reactive oxygen species (ROS) and the ability of a biological system to readily detoxify thereactive intermediates. We aimed to demonstrate the cellular oxidative damage in CDG patients bymeasuring oxidative stress biomarkers.MATERIAL/METHOD: We assessed the serum levels of 19 CDG patients and 14 healthy controls forreactive oxygen species (ROS), malondialdehyde (MDA), total sulfhydryl content (SH), advanced oxidationprotein product (AOPP), advanced glycation end product (AGE) and ferric reducing antioxidant power(FRAP).RESULTS: The median ROS levels were 104.1-106.3 (79.3-147.7) and 126.8-138.2 (69.4-262.2) in controlsand in patients respectively. There was a significant difference between two groups (p, 0.039). Median AGElevels were 170.6 (145.5-356) in controls and 269.8-273.6 (150.1-456.9) in CDGs (p, 0.002). Total SH levelsmedian was 223.4-228.3 (196.4-287.2) in the controls and 272.5-282.3 (206.2-657.9) in patients. Patients`total SH levels were higher than that of the control group (p, 0.17). Mean FRAP values are 318.9∓90.1 incontrols and 386.0∓143.7 in CDGs. In comparison to the control group, FRAP levels of CDGs werenoticeably higher. Median MDA values were 3.3-3.4 (2.4-7.8) in controls and 2.7 (1.3-9.7) in CDGs. MedianAOPP levels of control group were 101.2 (32.3-283) and 96.9-100.2 (34.7-570.5) in patients. A differencebetween the groups MDA and AOPP was not observed.CONCLUSION: Most of the proteins and lipids in the body need to be glycosylated and CDGs arecharacterized by multisystem involvement. In this study, we have demonstrated cellular damage in CDGsand suggest that support of antioxidant drugs to the treatment protocol would be beneficial.