Gaucher's disease

By | December 22, 2013

Gaucher's disease, caused by a hereditary deficiency of glucocerebrosidase, is a genetic disease in which fatty cells accumulate due to lysosomal storage defects. Glucocerebrosidase normally chops up certain lipids. Symptoms include bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. Around 1 in 100 are carriers for Gaucher's disease, whereas 1 in 15 for Ashkenazi Jews. The incidence of the disease is 1 in 20,000. Some forms of Gaucher's disease may be treated with enzyme replacement.

Gaucher's disease and Parkinson's disease

Patients with Gaucher's have a higher risk of developing Parkinson's. Even individuals who carry the Gaucher's disease mutation but have no symptoms (the 1 in 100 mentioned above) have higher risk for developing Parkinson's disease. When glucocerbrosidase is defective, it builds up, affecting further cellular pathways negatively. This is how Parkinson's comes into play - the dopaminergic cells are adversely affected by the build up of defective glucocerbrosidase.

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