The highest genetic risk factor for developing PD is loss-of-function mutations in the GBA gene, which encodes the lysosomal hydrolase acid beta-glucocerebrosidase, the enzyme deficient in the lysosomal storage disorder, Gaucher Disease. The exact mechanism(s) leading to increased risk of PD in Gaucher patients and GBA1 mutation carriers is unclear; however a generally well accepted concept in the PD community is that a critical relationship exists between endosomal-lysosomal dysfunction, an imbalance in glycosphingolipids (GSL), and the development of PD.
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