GBA Antibodies

The glucocerebrosidase (GBA) gene mutation is a very important and common risk factor for Parkinson's disease (PD). Some Gaucher disease (GD) patients and GBA mutation carriers are prone to develop PD. In addition, the frequency of PD patients carrying GBA mutations is also greatly increased. In most PD patients, GBA mutations are more common than other PD-related genes.

Elucidating the mechanism of the association between GBA mutations and PD will provide new and important insights into the treatment of PD. Current hypotheses and models have significant limitations, so we need to combine cell biology, neuropathology, and genetics to further study GBA-related PD and elucidate its pathogenesis and other risk factors that promote PD. Our antibodies are powerful tools for your research to propose new therapeutic strategies for this common disease and other neurodegenerative disorders, and to mitigate or prevent the progression of these diseases.

GBA Mutations and PD

• GBA mutation promotes α-synuclein aggregation. Mutant GBA and α-synuclein co-localize in protein aggregates in the brains of PD patients. Another study found that in brain samples from PD patients carrying GBA mutations, GBA was present in 33% to 90% of Lewy bodies, with an average of 75%, while in PD patients without GBA mutations, GBA was present in less than 10% of Lewy bodies.
• GBA mutation influences the autophagy-lysosome pathway. Mice with the homozygous GBA mutation V394L and deficiency of protein kinase C are a model for GD. By observing the axons in the mouse brain, the researchers found some aggregates in the axons where the autophagy markers LAMP-2 and p62 were present, suggesting that GBA mutations could lead to impaired autophagy and cause axonal degeneration.
• GBA mutation affects the ubiquitin-proteasome system. PARK2 encodes the E3 ubiquitin ligase parkin. Mutations in this gene lead to parkin dysfunction, which is associated with juvenile-onset autosomal inherited PD. Studies have shown that both wild-type GBA and the N370S mutant GBA can interact with parkin, suggesting that the interaction between mutant GBA and parkin prevents parkin from interacting with its substrate, thereby disrupting the ubiquitin-proteasome system and ultimately leading to endoplasmic reticulum stress and cell death.

Fig.1 Possible mechanism for the link between GBA mutation and PD.¹

GBA Antibodies Selection Guide

Choose the most appropriate GBA antibody for your research from Creative Biolabs' GBA antibodies library, which is suitable for a variety of applications and can bind to GBA in human, rat, and mouse. If you can't find the antibody you need, contact us now to develop custom antibodies for specific targets, species, and applications.

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Reference

1. Smith, Laura, and Anthony HV Schapira. "GBA variants and Parkinson disease: mechanisms and treatments." Cells 11.8 (2022): 1261. Distributed under Open Access license CC BY 4.0, without modification.