Study Rationale: One common familial inherited form of Parkinson’s disease (PD) is caused by triplication of SNCA, the gene that encodes the protein alpha-synuclein. Alpha-synuclein forms toxic aggregates in the brains of people with PD. This study aims to examine the impact this gene triplication has in different cell lines from people with PD.
Hypothesis: We hypothesize that comparing the effects on SNCA triplication in different cell lines from people with PD could reveal insights into PD pathology and generate resources to facilitate future PD research.
Study Design: We will assess the major alterations in neurons, astrocytes and microglia from multiple lines containing the SNCA triplication and in nonmutant control cells. This work will identify whether there are differences in the health of the cells as well as how they may differ functionally.
Impact on Diagnosis/Treatment of Parkinson’s disease: Our major goal is to identify the best resources for future PD research. The project will also identify critical differences in cells with the SNCA triplication that may be followed up in future work.
Next Steps for Development: Clinical applications will include the use of these lines in additional research, including therapeutic testing. Understanding the behaviors of different cell lines will yield an important resource for the community and improve future research efforts targeting therapies for PD.