Study Rationale: Changes to mitochondria (a compartment of cells important for providing energy) occur in some types of genetic (inherited) PD and PD that arises later in life with no known cause (idiopathic PD). Detecting those changes in samples from patients such as blood will help earlier diagnosis, prediction of disease course and targeted treatments. Mitochondria contain a small genome (DNA). The amount of this DNA and the amount of this DNA that is damaged is different in PD patients. This information comes from many studies but all the samples were taken from a different place and the scientists have been using different assays to measure the changes. We have formed a group of scientists from around the world to find a common procedure or PD test that is the most useful for patients and doctors.
Hypothesis: The amount of the mitochondrial DNA in the blood and the amount of this DNA that is damaged might indicate risk to develop PD and point out which patients may benefit from therapies that help the mitochondria to work better.
Study Design: The working group will put all their data together to get a better picture of the changes to the mitochondria and find out which pieces of the picture puzzle are the most important. Knowing this, they can test different samples to know what is the best sample to take and how to treat the sample once it arrives in the lab. Then the group will work out which test gives the clearest picture and work out what steps to take if the result is uncertain. Once the group finds the best sample type from the blood and the best test they will make sure that it can be done in other labs and is useful in diagnosing and predicting PD outcomes.
Impact on Diagnosis/Treatment of Parkinson’s disease: These kinds of tests could indicate that a healthy person or a person that is showing mild symptoms of PD is likely to develop PD and it could help work out which people that already have PD, have problems with mitochondria.
Next Steps for Development: This will allow doctors to test treatments that help improve mitochondria in those people that have some damage and even help people that have not yet shown PD symptoms to live a better quality of life for longer.