What is GBA and how does it relate to Parkinson’s Disease?

 

The GBA gene (Glucosylceramidase Beta Acid) encodes the protein glucocerebrosidase, or GCase. GCase functions to allow a brain cell to clear debris via a cellular component known as the lysosome. Those who have mutations in the GBA gene are at higher risk for Parkinson’s Disease because they have a reduction in GCase activity and can’t effectively remove the debris.  It is hypothesized that this excess debris aggregates, causing clumps of alpha synuclein, which is toxic to brain cells.  

The percentage of patients that have Parkinson’s with GBA is believed to be roughly 5% of the overall Parkinson’s population.

The Ashkenazi Jewish population makes up 30% of the Parkinson’s disease population with the mutation in GBA, and may benefit from treatments focused on restoring GBA activity.