Study Rationale:
DNA methylation is a regulatory mechanism that can turn genes on or off within the cells in our body. In Parkinson's disease (PD), methylation near SNCA (a gene linked to PD) is lower in those with Parkinson's compared to healthy controls. However, this association has not been studied in detail nor has it been evaluated with regard to symptoms or disease progression.
Hypothesis:
We hypothesize that changes in SNCA DNA methylation contribute to Parkinson's. If these changes can be detected in blood samples, DNA methylation may be used as a potential biomarker (tracks disease activity) to predict clinical outcomes in PD.
Study Design:
We will use modern high-throughput sequencing technology (method to quickly analyze genes) to investigate SNCA methylation in 100 samples from participants with PD and 100 samples from controls. We will then perform the same analyses in corresponding blood samples and will test if SNCA methylation is linked to clinical outcomes.
Impact on Diagnosis/Treatment of Parkinson's disease:
A better understanding of how the SNCA gene is regulated could help fuel the development of treatments targeting the -synuclein, the sticky protein that plays a central role in PD progression. Furthermore, changes in SNCA methylation may help identify a specific subgroup of those with PD, which would provide valuable information to inform clinical trial design and, ultimately, would contribute to advancing personalized medicine for Parkinson's.
Next Steps for Development:
If the study is successful, the next step will be to develop a cheaper, more specific assay (test) that could be used to confirm the results in a larger sample set and facilitate the implementation of SNCA methylation as a biomarker for future clinical research.