Gaucher disease, a rare genetic disorder, is caused by mutations in the GBA gene, which encodes the enzyme glucocerebrosidase (also known as beta-glucocerebrosidase or GCase). This enzyme is responsible for breaking down a fatty substance called glucocerebroside (GlcCer) into glucose and ceramide. When the enzyme is deficient or nonfunctional, glucocerebroside accumulates within certain cells, leading to a range of pathological changes in various organs and tissues.
The Link Between Gaucher and Parkinson’s Disease
Individuals with Gaucher disease, particularly those with certain GBA mutations, have an increased risk of developing Parkinson’s disease compared to the general population. Both Gaucher disease and Parkinson’s disease share certain GBA mutations, which has opened up new avenues of investigation into the relationship between these two conditions, and may lead to a better understanding of Parkinson’s disease and potential therapeutic interventions.
Rodent Models of Gaucher Disease
Conduritol beta epoxide, or CBE, is a chemical compound that inhibits the activity of glucocerebrosidase (GCase), the enzyme deficient in Gaucher disease. By inhibiting GCase, CBE causes the accumulation of Glc-Cer in the spleen, liver, and brain, severe motor impairment including reduction in total distance traveled in the open field, a faster latency to fall in the rotarod, gait distortion, and death as early as 3 weeks post CBE treatment initiation.
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