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Funded Studies

The Role of Inflammation and Risk of Parkinson's Disease in People with GBA1 Mutations

Study Rationale:
Mutations (changes) in GBA1, the gene that directs the production of the glucocerebrosidase (GBA) protein, can increase the risk of Parkinson's disease (PD) in some people, but not in everyone. Why some people with GBA1 mutations develop Parkinson's and others do not is currently unknown. In our study, we will assess inflammation in people with PD with and without GBA1 mutations to determine if it is useful in identifying those more likely to develop Parkinson's disease.

Hypothesis:
We hypothesize that inflammation is elevated in people at higher risk of PD.

Study Design:
We will collect blood samples from people with and without Parkinson's, some of whom carry GBA1 mutations. We will then analyze inflammatory proteins in the samples and determine if and how inflammation relates to Parkinson's disease.

Impact on Diagnosis/Treatment of Parkinson's disease:
This study could help identify people with GBA1 mutations who are more likely to develop PD. We expect to learn more about the role of both GBA and inflammation in Parkinson's. Finally, we hope to determine whether drugs that act on GBA or inflammation may be useful in treating Parkinson's disease, and if so, who will benefit from such drugs the most.

Next Steps for Development:
If our hypothesis is correct, it will be important to confirm our results in a larger group of people with Parkinson's disease.


Researchers

  • Roy Alcalay, MD, MS

    New York, NY United States


  • Nicolas Dzamko, PhD

    Sydney Australia


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