Type 1 Gaucher Disease is an autosomal recessive lysosomal storage disease, as both copies of the gene must be defective. Carriers have one normal and one defective gene. It is caused by missing the enzyme β-glucocerebrosidase that breaks down a glycolipid called glucocerebroside, which accumulates in the body. Symptoms can come up at any age and can include the following: enlargement of the spleen/liver, easy bleeding/bruising, fatigue, weak bones, as well as bone and joint pain.
One study looked at levels of trace elements (Cu, Zn), lipid peroxide, nitric oxide (NO), and microparticles (MPs) in Gaucher Disease (GD) before and after 1 year of enzyme replacement therapy (ERT). There were 15 children with GD, and 15 without for control. They detected serum levels for lipid peroxide, trace elements (TEs), and NO, and used flow cytometry to determine MPs. Ceramide and glycosphingolipids (byproducts of Gaucher Disease) are in signal transduction pathways which cause reactive oxygen species (ROS) to generate. Essential TEs copper and zinc (as well as selenium) are cofactors of antioxidant enzymes. The Zn can protect against cytokine-mediated activation of oxidative TFs, inflammatory cytokine upregulation, and dysfunction of endothelial cells. The serum levels of zinc and copper were determined using atomic absorption.
In the graph below, the information is as follows: lipid peroxide levels were measured by a thiobarbituric acid assay. It is a measure of oxidative stress, and there is a significant decrease in serum levels. Nitric oxide was used from plasma nitrate levels comparing standard curves of serial dilutions. NO is involved in various physiological processes, but excessive levels are associated with inflammation and oxidative damage. As seen in the graph, there is a significant decrease after 1 year of ERT, returning to levels of non-Gaucher’s pediatric patients. Zn, Cu, and Se were determined by atomic absorption/flam emission spectrometer. Zn and Cu are essential trace elements for enzymatic functions and antioxidant defense. Serum levels of both significantly increased after ERT. Se is another element vital for antioxidant enzymes, although there was no statistically significant change.
In another table, the researchers examined a few baseline characteristics before and after 1 year of ERT. It is seen that liver and spleen span sizes decrease, where glucocerebroside typically accumulate. Hemoglobin levels increase; they pick up oxygen from the air we breathe and deliver it to the body, which prevents anemia. Platelet levels increase, which are cell fragments in the blood that prevent and stop bleeding.
Sources:
MA;, Zahran AM; Elsayh KI; El-Deek SE; El-Baz. “Oxidative Stress, Trace Elements, and Circulating Microparticles in Patients with Gaucher Disease before and after Enzyme Replacement Therapy.” Clinical and Applied Thrombosis/Hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/23698728/