Blood-Based Genetic Signature Offers New Hope for Parkinson's Disease Diagnosis

Recent scientific advances have opened new avenues in the diagnosis of Parkinson's disease, a neurodegenerative disorder primarily affecting the central nervous system. While traditionally diagnosed based on clinical symptoms, emerging research highlights the significant role of the immune system in the development and progression of the disease.

A groundbreaking study published in the journal Brain by researchers from the University of Montreal, led by associate professor Martine Tétreault, sheds light on specific immune cell activity associated with Parkinson's. Utilizing the novel single-cell RNA sequencing technology, scientists have identified that immune cells in the blood of Parkinson's patients are more activated and overexpress genes linked to stress responses. These gene expression patterns form a distinctive genetic signature that can potentially serve as a biomarker for the disease.

The study involved analyzing blood samples from 14 patients with confirmed Parkinson's, six patients with Parkinsonian syndromes, and a control group of 10 healthy individuals. Remarkably, the gene signature allowed researchers to differentiate between Parkinson's and other related syndromes such as progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). This differentiation is crucial for improving diagnostic accuracy, as current methods lack definitive biomarkers.

With early and accurate diagnosis being a significant challenge in Parkinson's care, this blood-based signature holds promise for earlier detection and more precise patient stratification in clinical trials. By developing a complete atlas of immune cell subtypes in healthy and Parkinson's-affected individuals, scientists are paving the way for better understanding and managing this complex disease.

As of 2024, approximately 110,000 Canadians live with Parkinson's, a number expected to rise to 150,000 by 2034. This research is a significant step toward transforming Parkinson's diagnosis and ultimately improving patient outcomes.

For more detailed information, see the original study: Gael Moquin-Beaudry et al, Mapping the peripheral immune landscape of Parkinson's disease patients with single-cell sequencing, Brain (2025). DOI: 10.1093/brain/awaf066.
source: https://medicalxpress.com/news/2025-05-parkinson-blood-based-genetic-signature.html