Studies have revealed that 13% of patients suffer from a genetic version of the neurological disorder.
A US study supported by the Parkinson’s Disease Foundation has found that genetic mutations linked to Parkinson’s disease (PD) are more common than researchers previously thought.
PD GENEration research published in journal brain Since 2019, we have been testing for clinically relevant PD-associated genes while providing free genetic counseling to PD patients, and recently reached the milestone of recruiting more than 15,000 patients.
Parkinson’s is a neurodegenerative disorder that gradually damages parts of the brain, causing problems such as tremors and stiffness.
Results from the first three and a half years of the study showed that 13 percent of patients had hereditary Parkinson’s, and the prevalence of the gene mutation was significantly higher in people at high risk of developing Parkinson’s: 18 percent of people who developed Parkinson’s early onset, had high-risk ancestry such as Ashkenazi Jewish, Spanish Basque, or North African Berber, or had a first-degree relative with Parkinson’s.
Additionally, a total of 7.7% of patients had GBA1 gene mutations that significantly reduced or eliminated the activity of lysosomal acid glucosylceramidase in cells, while 2.1% and 2.4% of participants had mutations in the PRKN gene, a gene that provides instructions for making a protein called parkin, which plays a role in cellular machinery, and the LRRK2 gene, a gene that provides instructions for making a protein called dardarin, which has an enzymatic function known as kinase activity, respectively.
“We hope that this will lead to increased enrollment in observational studies and clinical trials of therapies targeted at these genes, streamlining precision medicine clinical trials for Parkinson’s disease,” said Roy Alkaley, PhD, of the Department of Neurology at Tel Aviv Medical Center and Columbia University Irving Medical Center, the study’s lead investigator.
The next phase of the PD GENEration study aims to enroll an additional 8,000 patients, including 2,400 in Latin America, and is supported by the Global Parkinson’s Disease Genetics Program to accelerate the study’s impact by focusing on populations that have been previously underrepresented in research.
