Researchers have developed a simple and cost-effective blood test capable of detecting Parkinson's disease long before symptoms emerge, comparing the current state of diagnosing neurodegenerative diseases to the fight against cancer 50 years ago—when most cases were identified too late for effective treatment. The test quantifies specific RNA fragments in the blood, focusing on a repetitive RNA sequence that accumulates in Parkinson's patients and a parallel decline in mitochondrial RNA, which deteriorates as the disease progresses. By measuring the ratio between these biomarkers, the test offers a highly accurate, non-invasive, rapid and affordable diagnostic tool, providing hope for early interventions and treatments that could change the course of the disease.
Link to video: https://drive.google.com/file/d/1Eajbh1wbuwZilnBa1DBFmHOAc_iHFswh/view?usp=sharing | Title: The neuronal network in the mammalian brain includes many dopamine-reacting nerve cells - miniature box including nerve calls that create a network in the mammalian brain. Credit: Nadav Yayon
Diagnosis of neurodegenerative diseases is these days at the level that cancer diagnosis was 50 years ago: disease is identified when most of the relevant neurons have already died, and it is therefore too late to cure. To address this problem, researchers at the Hebrew University of Jerusalem have unveiled a groundbreaking blood test that could revolutionize an early diagnosis of Parkinson's disease (PD), paving the way for timely interventions and improved patient outcomes. The study, published in Aging Nature, led by PhD student Nimrod Madrer under the supervision of Prof. Hermona Soreq at The Edmond and Lily Safra Center for Brain Sciences (ELSC) and The Alexander Silberman Institute of Life Sciences, at the Hebrew University, in collaboration with Dr. Iddo Paldor from the Shaare Zedek Medical Center, and Dr. Eyal Soreq from University of Surrey and the Imperial College London. Intriguingly, it introduces a novel approach to detecting PD at its earliest stages through the analysis of transfer RNA fragments (tRFs).
Traditionally overlooked in Parkinson's research, tRFs (transfer RNA fragments) are small RNA molecules with the potential to reveal significant changes in the body linked to neurodegeneration. The researchers identified two key biomarkers—an increase in PD-specific tRFs carrying a conserved sequence motif (RGTTCRA-tRFs) and a decrease in mitochondrial tRFs (MT-tRFs). By measuring the ratio between these biomarkers, the new test can distinguish pre-symptomatic Parkinson's patients from healthy controls with an accuracy surpassing that of existing clinical diagnostic tools.
"This discovery represents a major advancement in our understanding of Parkinson's disease and offers a simple, minimally-invasive blood test as a tool for early diagnosis," said Prof. Hermona Soreq. "By focusing on tRFs, we've opened a new window into the molecular changes that occur in the earliest stages of the disease."
The test employs a straightforward, dual qPCR assay, measuring the ratio between the repeated short motif and an exemplary mitochondrial sequence, making it cost-effective and accessible for use in a wide range of healthcare settings. In trials involving samples from multiple international cohorts, including the Parkinson's Progression Markers Initiative, the test achieved a diagnostic accuracy of 0.86, significantly outperforming traditional clinical scoring methods. Moreover, the study found that RGTTCRA-tRF levels decrease following deep brain stimulation, further linking these RNA fragments to both disease mechanisms and treatment responses.
Lead researcher Nimrod Madrer emphasized the importance of early detection, noting that Parkinson's disease is often diagnosed only after significant brain damage has occurred. "This test has the potential to alleviate the uncertainty faced by patients and clinicians, offering a reliable and rapid method to identify the disease in its earliest stages," Madrer stated.
The findings have been published under US Provisional Patent Applications, and large scale diagnostic tests provided broader clinical validation. This research represents a significant milestone in the fight against Parkinson's disease, offering new hope for millions of people worldwide.
