New Research at NIH Could Lead to Breakthroughs for People with Early Onset Parkinson's Disease

Sue Laux, PAN’s Tennessee State Director, recently participated in an exciting clinical trial at the National Institutes of Health (NIH) to create a stem cell line, which may one day lead to the prevention of or delay in the progression of early onset Parkinson's disease.

Sue, who was diagnosed with early onset Parkinson’s in 1987 at age 37, is also one of the few people who has a Parkinson’s gene called parkinson protein 2, also known as PARK2. According to the NIH website, researchers have identified more than 200 PARK2 gene mutations that cause Parkinson disease. Mutations in this gene are associated with early onset Parkinson disease, which appears before age 50.

Sue said she learned she had the PARK2 gene in June, but has been participating in various studies at NIH since 2003. Sue has had several family members diagnosed with Parkinson’s, including one of her siblings, who was diagnosed with early onset, and an uncle and cousin on her maternal side.  She felt chances of having a gene were high. Sue said she is excited about the most recent trial, which will enable scientists to learn so much more about the disease from her stem cell line and called this study the “grand daddy” of all trials she’s worked on.

“When I was first diagnosed there was talk about finding a cure in five to 10 years, and we thought we’d find a cure in the 1990s,” she said. “But here we are and we still don’t understand how Parkinson’s works in the body. I think this is very exciting because I’ve spent a lot of time doing research studies and sooner or later they have to find something. I’m willing to keep plugging away at it.”

The researcher leading this work at NIH is Dr. Michael Sack, senior investigator for the Laboratory of Mitochondrial Biology and Metabolism. Dr. Sack’s laboratory focuses on modifications of proteins that play pivotal roles in metabolism and mitochondrial function to understand how these modifications affect disease risk. Advances in this work could help people with diabetes, obesity, cardiovascular disease, and early onset Parkinson’s disease.

Dr. Sack said that they have three people who have been identified as having the mutation in the PARK2 gene and have agreed to have stem cells created. He would like to find at least seven to 12 more in order to have a good sample size. Dr. Sack's team is specifically going to be looking at how mutations in the PARK2 gene affect the ability of cells to take up fat. While fat is often associated with negative effects on the heart and other parts of the body, fat and cholesterol are actually very important in brain development, as well as, to enable the brain to remain healthy and to repair itself in response to its regular activity.  This study will help determine whether the PARK2 mutation’s interaction with fat causes early onset Parkinson’s disease to develop in people. From there, he said they might be able to determine if any molecules or compounds can actually reverse or slow down the progression of the effects on the brain.

Dr. Sack said the first step in getting this work completed is to find the people with the right gene to participate in the study. To make it easier for people with Parkinson’s to participate, his NIH lab is willing to have people send their blood by mail to determine if they have the gene before they have to travel to Bethesda, Maryland, where NIH is headquartered.  

While this research is just getting underway, Dr. Sack said he expects the research to take about two years to complete once they have enough people participating in the study.

People who have been diagnosed with early onset Parkinson’s disease and who are interested in participating in this study may contact Dr. Sack directly.

To learn more about participating in other clinical trials, visit the NIH clinical trials website at clinicaltrials.gov or The Michael J. Fox Foundation for Parkinson’s Research’s Trial Finder at foxtrialfinder.michaeljfox.org.

 

Date originally posted: August 23, 2013.