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.
Links to Research
Find out more about GBA gene mutations, clinical trials and research publications using the links below.
- Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations, Alcalay et. al.
- Glucocerebrosidase mutations in clinical and pathologically proven Parkinson’s disease, Neumann et. al.
- Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies, Sardi et. al.
- The relationship between glucocerebrosidase mutations and Parkinson disease, Migdalska-Richards et. al.
- Multi-center analysis of glucocerebrosidase mutations in Parkinson disease, Sidransky et. al.
- Glucocerebrosidase is shaking up the synucleinopathies, Siebert et. al.
- CNBC: Venture capitalist wages war against Parkinson's, searches for miracle after his own diagnosis
- FierceBiotech: Silverstein-backed startup will test gene therapy for Parkinson's
- CNBC: Investing in a cure
- BusinessWire: The Silverstein Foundation, REGENXBIO, and OrbiMed Launch Prevail Therapeutics
- The Michael J. Fox Foundation for Parkinson's Research: A Personal (and Professional) Mission to Cure Parkinson's
- Forbes: Meet Top Top VC In a Race To Find His Own Parkinson's Cure
- The Globes Israel (in Hebrew)