ÃÂ-Glucosidase Deficiency Promotes Increasing Protein Oxidative Damagein Pompe Disease Patients

Abstract

Objective: Pompe disease is an autosomal recessive disorder of lysosomal storage, caused by the deficiency of α-glucosidase lysosomal enzymes. Several studies have demonstrated the involvement of oxidative stress in numerous pathophysiological changes. To assess parameters of oxidative stress in patients with Pompe’s disease (PD) and in normal controls, establishing a possible analysis of the differences between both groups. Methods: Evaluation, in plasma samples and leukocytes, of the enzyme activities of α-glucosidase, of antioxidants SOD1 and CAT enzymes, as well as the levels of lipid peroxidation (TBARS), protein damage (carbonyl) and non-enzymatic antioxidant (sulphydryl) defenses on samples of 10 individuals with PD (4 women and 6 men) and 10 healthy individuals. Results: There was a reduction in the enzymatic activity of α-glucosidase in samples of leukocytes of patients with PD compared to samples from normal subjects, confirming the deficiency of this enzyme. With respect to oxidative stress, there was an increase of carbonyl groups in the plasma of the PD patients studied relative to controls, suggesting oxidative damage to proteins. No differences were observed between the two groups for the remaining oxidative stress parameters evaluated. Discussion: We conclude, therefore, that the presence of PD is a significant factor to increase the oxidative stress levels, with no change in levels of antioxidant enzymes. It is suggested that further studies with other lysosomal storage diseases be carried out in order to propose, in the future, antioxidant therapies to prevent protein damage.