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Biochemical parameters and epigenetic events in macrophages with different chitotriosidase activities


Gaucher disease (GD) is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase (beta-glucosidase), a lysosomal enzyme that catalysis the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose. GD presents highly prevalence among Ashkenazi Jews. Laboratory diagnosis is performed by the measurement of beta-glucosidase activity, which is deficient among patients. Plasma chitotriosidase levels are use in the diagnosis and monitoring of GD. Once diagnosed, patients are treated with enzyme replacement therapy, which allows the reversal of various parameters, improving the quality of life of patients. One of these parameters is the decrease of chitotriosidase activity, which is a form of monitoring the treatment. Nevertheless, the deficiency of chitotriosidase affects approximately 6% of the Caucasian population, making this measure ineffective in some cases. On the other hand, a function for this enzyme was not yet established, as well as, the reason for its increase in GD and in a number of other diseases such as sarcoidosis, malaria, Fabry disease, beta-thalassemia, Alzheimer's disease, Krabbe, among others. An explanation for this amendment could be the involvement of oxidative stress. Deganuto and co-workers confirmed the change in the system oxidant-antioxidant in fibroblasts of patients, who also have a higher activity of catalase in their erythrocytes. Our goal with this study is to investigate a possible link between the activity of chitotriosidase and oxidative stress. Similarly, we will also investigate the possible involvement of epigenetic events in the regulation of chitotriosidase activity. (AU)

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