A US study supported by the Parkinson’s Foundation has revealed that genetic variants associated with Parkinson’s disease (PD) are more common than researchers previously thought.
The PD GENEration study published in the journal Brain has been testing for clinically relevant PD-related genes while providing genetic counselling at no cost for people living with the condition since 2019, and recently reached a recruitment milestone of more than 15,000 patients.
PD is a neurodegenerative condition in which parts of the brain become progressively damaged, causing problems such as shaking and stiffness.
Results from the first 3.5 years of the study showed that 13% of patients have a genetic form of PD and revealed that positivity rates for a genetic variant were significantly higher for individuals at high risk of developing PD. Those with early-onset PD, high risk-ancestry such as Ashkenazi Jewish, Spanish Basque, or North African Berber, or with first-degree relatives affected by the disease had an 18% positivity rate.
In addition, a total of 7.7% of patients carried a GBA1 genetic mutation, which greatly reduces or eliminates the activity of lysosomal acid glucosylceramidase in cells, while 2.1% and 2.4% of participants carried a PRKN genetic mutation, a gene that provides instructions for making a protein called parkin, which plays a role in the cell machinery, and a LRRK2 genetic mutation, which provides instructions for making a protein called dardarin, which has enzyme function known as kinase activity, respectively.
Lead investigator of the study, Tel Aviv Medical Center and the department of neurology, Columbia University Irving Medical Center’s Roy Alcalay, said: “[The results] will hopefully translate to increased participation in observational studies and clinical trials toward therapies targeting these genes, simplifying precision medicine clinical trials in PD.”
In its next phase, which aims to enrol an additional 8,000 patients, including 2,400 in Latin America, the PD GENEration study is being supported by the Global Parkinson’s Genetics Programme to accelerate its impact by focusing on those who have been historically underrepresented in research.

https://pharmatimes.com/news/study-reveals-genetic-variants-are-more-common-in-parkinsons-disease-patients/