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Enhancing N-glycosylation of Glucocerebrosidase and other Lysosomal Enzymes as a Disease Modifying Therapy for Parkinson’s Disease

Study Rationale: Parkinson’s disease (PD) is an age-related neurological movement disorder characterized by the abnormal aggregation of a protein called α-synuclein (α-syn) in the brain. Normally these aggregates are removed by cellular degradation machinery; however, the cell’s ability to remove aggregates is compromised with aging. Furthermore, genetic mutations in degradation machinery pose a strong risk for developing PD. Proteins involved in clearance of aggregates can be modified by sugar groups (called glycosylation), which can protect them or alter their function. Our data indicates that protein glycosylation is disrupted in neuronal cultures derived from PD patients, and this may disrupt the cells ability to clear aggregates.

Hypothesis: Here, we will determine if restoring protein glycosylation balance will improve the cell’s ability to remove toxic protein aggregates and prevent neurodegeneration, using patient-derived neuron cultures and mouse model.

Study Design: In neuronal cultures derived from PD patients and mouse models, we will restore the sugar modification on proteins (degradation machinery) by enhancing the production of specific sugars. This will be achieved by manipulating the glycosylation machinery or providing cells/PD mice with sugar precursors-used as dietary supplement.

Impact on Diagnosis/Treatment of Parkinson’s disease: If successful, we hope to have identified a novel set of targets centered on glycosylation machinery of a cell, which can be further developed into drugs that can enhance cellular degradation of aggregated proteins.

Next Steps for Development: This study will establish HBP as therapeutic target in vivo. Once validated, it would justify the use of sugar precursors to enhance glycosylation that can be eventually translated into therapies for PD and other age-related neurodegenerative disorders. These sugar precursors may move to clinics rapidly as they are safe and already used as dietary supplements.


Researchers

  • Joseph R. Mazzulli, PhD

    Chicago, IL United States


  • Willayat Yousuf Wani, PhD

    Chicago, IL United States


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