GBA1 functions in the cell and Parkinson’s disease pathogenesis

Gaucher disease is a rare, autosomal recessive disease caused by mutations in the GBA1 gene, which encodes the enzyme glucocerebrosidase.^4,5 This enzyme is required for the normal function of lysosomes – a component of the cell that degrades unwanted materials.^1,3,5 It was in the treatment of Gaucher disease that researchers noted that there were higher proportions of patients with PD than would otherwise be expected, highlighting GBA1 as a shared risk factor for both Gaucher disease and PD.⁴ The increasing understanding of GBA1-driven PD pathology has led to some promising avenues of treatment research, including the idea of using virus vectors to deliver wild-type glucocerebrosidase to neurons, and the use of small molecule chaperone proteins to increase the levels of properly folded glucocerebrosidase within cells.²