Defenses Against Oxidative Stress Elevated in Gaucher Disease Type I Patients

Defenses Against Oxidative Stress Elevated in Gaucher Disease Type I Patients

Patients with Gaucher disease (GD) exhibit higher levels of several markers of antioxidant defense compared to healthy controls, a finding that highlights the alterations associated with the disease and the mechanisms triggered to prevent further damage.

The study of these alterations, “Oxidative stress parameters of Gaucher disease type I patients,” was published in the journal Molecular Genetics and Metabolism Reports.

Oxidative stress is a damaging condition that arises when our cells fail to control the production of reactive oxygen species, leading to an imbalance between pro-oxidants and antioxidants (in favor of the pro-oxidants).

High rates of reactive oxygen species, and also reactive nitrogen species, both causes of oxidative stress, may occur in GD, a lysosomal storage disorder characterized by deficiency of the lysosomal enzyme glucocerebrosidase, which  leads to multiple organ dysfunction.

Researchers tested several markers of oxidative stress in blood samples of GD patients to better understand the cellular alterations associated with the disease. They investigated thiobarbituric acid substances (TBARS) and carbonyl as markers of oxidative damage and of catalase (CAT), superoxide dismutase (SOD) and total content of sulfhydryl (SH) as markers of antioxidant defense in patients with GD type I (the most common and chronic, non-neuropathic form of the disease), and compared their findings to the levels seen in the blood of healthy controls.

In total, 10 GD patients and 11 healthy controls were analyzed. Researchers detected that GD patients presented changes in all markers of antioxidant defense, including CAT, SOD and SH, when compared to controls. These results corroborate other studies that have shown an increase in the amount of activity in the CAT antioxidant enzyme in GD patients relative to healthy individuals. Such findings were also observed in other lysosomal storage diseases, such as Mucopolysaccharidosis type I and Fabry’s disease.

This suggests a generation of reactive oxygen species in GD, as well as an increase in the surveillance and repairing system, likely in order to prevent an increase in hydrogen peroxide, causing damage to lipids.

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Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Laboratory of Doctor David A. Fidock, Department of Microbiology & Immunology, Columbia University, New York.

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