Study Rationale:
Repetitive DNA elements such as “jumping genes” were previously considered ‘junk DNA’. However, it is now known that these elements are involved in the development of several diseases and can regulate how much of a gene is produced. The study of these elements is complex and requires specialist software tools for their analysis, therefore they have not been widely studied in Parkinson’s disease.

Hypothesis:
Our aims are to determine

• if specific types of these repetitive DNA elements increase the risk of developing Parkinson’s disease,
• if these elements affect how a person’s Parkinson’s disease progresses,
• and the functional impact of these elements on how much of a gene is produced.

Study Design:
Our study will analyze sequencing data from the Parkinson’s Progression Markers Initiative — which follows individuals with early-stage Parkinson’s or with risk factors and control volunteers over time — using specialized software tools to identify variation in the repetitive DNA elements of these individuals. This data can then be used to look for particular variants that might occur more frequently in individuals with Parkinson’s disease and if particular elements occur in individuals whose disease progresses quicker.

Impact on Diagnosis/Treatment of Parkinson’s Disease:            
Repetitive DNA elements identified in this study could be used to identify individuals whose disease may progress quicker and direct treatment development to new targets that could modulate the effect of these elements.

Next Steps for Development:
The repetitive DNA elements identified through the computational analysis will be checked in the laboratory using DNA from the same individuals to validate the findings from this study.

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