For a study, researchers aimed to see if glucocerebrosidase (GBA) carriers with or without Parkinson’s disease have changed plasma cytokines and immunological biomarkers linked with Gaucher disease (GD). Gaucher disease (GD) is caused by homozygous and compound heterozygous variations in glucocerebrosidase (GBA), whereas heterozygous variants enhance the risk for Parkinson’s disease (PD). As a result, peripheral immune proteins in patients with GD are changed. However, whether they are changed in GBA carriers with PD is uncertain.
GBA pathogenic variant carriers with (n = 135) and without (n = 83) PD, as well as non-carriers with (n = 75) and without PD (n = 77), were tested for inflammatory cytokines and established GD biomarkers, ferritin, CD162, CCL18, and chitotriosidase (28 biomarkers).
Ferritin, CCL18, and MIP1 levels were all higher in the plasma of patients with PD who had biallelic pathogenic mutations in GBA. In heterozygous GBA carriers, these biomarkers were not elevated. GD plasma biomarkers are not attractive options for stratifying the risk for PD in bearers of heterozygous GBA pathogenic mutations.
Reference link- movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.28525
