The Relationship Between Gaucher Disease and Oxidative Stress
Chapter from the book:
Meydan,
İ.
&
Demir,
C.
(eds.)
2025.
Health and Biochemistry.
Synopsis
Gaucher disease (GD) is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase, which is responsible for the lysosomal degradation of glucosylceramide. This enzymatic deficiency leads to the accumulation of lipid substrates within lysosomes, impairing the storage function of these organelles. GD primarily affects the liver, spleen, blood cells, bones, and nervous system, resulting in a range of clinical manifestations. Oxidative stress refers to a pathological condition characterized by an imbalance between the production of reactive oxygen species (ROS) generated either endogenously or exogenously and the body's ability to detoxify these reactive intermediates or repair the resulting damage. ROS can interact with and impair the function of vital biomolecules, contributing to cellular dysfunction. The body possesses a defense system comprising antioxidant enzymes and molecules that serve as biomarkers of oxidative stress and mitigate oxidative damage. Measuring the levels of these antioxidants and biomarkers provides insight into the oxidative stress status of the organism. In this compiled section, the relationship between oxidative stress and Gaucher disease is explored by evaluating oxidative stress markers in individuals diagnosed with GD.
