Researchers at University of California, San Diego School of Medicine, are using a $375,000 grant from the Michael J. Fox Foundation (MJFF) to support work aiming to identify blood biomarkers that might finally lead to an early diagnosis of Parkinson’s disease.
“One of the really unmet needs with Parkinson’s disease is the creation of a simple diagnostic test that can identify the disease early on,” said study leader Paula Desplats, PhD, assistant professor in the Department of Neurosciences at the UCSD, in a university press release. “Like other neurodegenerative disturbances, by the time a Parkinson’s patient has outward symptoms, many neurons are lost.”
No diagnostic tests currently exist for Parkinson’s disease (PD), a condition that affects approximately 1 million people in the United States. Physicians now rely on patients’ symptoms, medical history and neurological exams. Finding biomarkers — unique signs that indicate the existence or progress of a disease — could greatly advance Parkinson’s research.
The study will investigate DNA methylation, an epigenetic cell signaling mechanism used to switch genes on or off, which affects a cell’s physiology. “The most important thing in our study is identifying a biomarker that could be easily tested in the clinic,” Dr. Desplats said. “You can’t probe the brain of the patient; you need to be able to look at tissue that is easily accessible. So we began to investigate changes in methylation that can be read in blood.”
Dr. Desplats’ research is based on two previous, smaller studies that showed unique epigenetic changes in the blood of PD patients compared to controls. One, from 2013-14, involved 46 people and was also financed by MJFF. That study’s findings were “highly sensitive and specific,” she said. “We found a group of genes that, when taken together, show a particular pattern in Parkinson’s disease. They (MJFF) invited us to continue.” The new study, set to begin this month, involves 216 Parkinson’s patients and 216 healthy controls. The Harvard Neurodiscovery Biomarker Program, a study partner, will provide the blood samples to be analyzed. “This is the first longitudinal study of blood methylation for Parkinson’s disease,” concluded Dr. Desplats. “That’s important because these changes may not only help us determine who has Parkinson’s disease, but also help us monitor how a person is progressing in the disease.”
The research team expects to publish study results in 2017.