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Funded Studies

DNA Methylation Profiling from Blood as a Source for Biomarker Discovery in Parkinson’s Disease

Epigenetic mechanisms regulate when the information stored in the DNA is expressed to ensure the proper function of the cells, including neurons in the brain. Recent studies have detected abnormal DNA methylation in the brains of Parkinson’s disease (PD) patients, and those alterations might be also evident in the blood cells. Our goal is to study in detail the changes in DNA methylation in PD patients to determine if they could be useful as a new diagnostic tool.

Project Description:             
In this study we will compare the DNA methylation patterns from cells isolated from blood samples from 46 PD patients and 46 control subjects. We will investigate more than 450,000 sites in the genome per individual using microarray technology. Once we detect the genes that present the highest changes in PD samples, we will select the ones that can better differentiate a PD patient from a control subject to generate a diagnostic panel.

Relevance to Diagnosis/Treatment of Parkinson’s Disease:                     
Proper diagnosis of PD is usually achieved when motor disturbances are evident, which implies that many neuronal cells have been lost in the brain already. Our work aims at identifying a new molecular signature of PD that might help with accurate diagnosis and that can be easily performed on a blood sample. If DNA methylation alterations are evident during the first stages of disease progression, this epigenetic feature might serve as an early diagnostic tool.

Anticipated Outcome:          
We hope to generate a very detailed map of the DNA methylation changes in blood cells associated with PD that can expand our knowledge of the mechanism of disease at a molecular level. In particular, we aim at identifying a set of genes whose methylation levels might serve as an accurate and robust tool to detect PD manifestations to aid in clinical diagnosis.

Final Outcome

DNA methylation is a mechanism that cells use to turn certain genes on and off. In this study, we aimed to assess changes in DNA methylation in people with Parkinson's disease (PD) to determine if those changes could be used to diagnose Parkinson's. We were able to identify PD-associated changes in DNA methylation in blood cells. Most likely, these changes modify the production of protein from the corresponding genes and contribute to disease progression. Importantly, we determined that a simple blood test for methylation of 12 specific genes might help to accurately diagnose Parkinson's. We will need to confirm our findings in other samples from people with Parkinson's and from healthy people. We will also investigate how PD therapies modify the methylation of genes discovered in this study to evaluate if this would be useful in monitoring the response to treatment. 

October 2014


  • Paula A. Desplats, PhD

    San Diego, CA United States

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