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Funded Studies

Studying the Effects of TMEM175 and CTSB on Glucocerebrosidase Activity and Alpha-synuclein Properties

Promising Outcomes of Original Grant:
The aim of the original grant was to study if there are genes that modify the risk of Parkinson’s disease (PD) or the age at onset of PD, among people who carry mutations in the GBA gene. With this analysis, we discovered that two genes, TMEM175 and CTSB, may modify the risk or age at onset of PD.

Objectives for Supplemental Investigation:          
We will examine whether TMEM175 and CTSB affect specific biological mechanisms that are associated with PD. We will use dopaminergic cell models derived from patients who carry variants in TMEM175 and CTSB to both overexpress and knockout these two genes. We will then examine how these genes affect the activity of the glucocerebrosidase enzyme (impacted by GBA mutations) and the accumulation and phosphorylation of alpha-synuclein (hallmark pathology of PD).

Importance of This Research for the Development of a New PD Therapy:      
The current research will help us determine if TMEM175 and CTSB affect the activity of GBA and the accumulation of alpha-synuclein in cell models from PD patients. Identifying TMEM175 and CTSB as modifiers of GBA will make them potential targets for therapies.


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