Measuring certain proteins in the blood, which serve as biomarkers, could make it easier to diagnose rare neurodegenerative diseases such as amyotrophic lateral sclerosis, according to a study.
- Researchers have shown for the first time that the majority of these pathologies could be detected early with simple blood tests.
- The results are based on the measurement of certain proteins (tau and TDP-43) in the blood, which serve as biomarkers: a combination of both is necessary for the diagnosis of behavioral TMD, while TDP-43 protein is sufficient for ALS and tau protein for PSP.
- The scientists used a new – and more reliable – method to measure levels of proteins found not in blood plasma, but directly inside extracellular vesicles.
Frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy (PSP) form a spectrum of rare neurodegenerative diseases, characterized by symptoms of dementia, behavioral disturbances, paralysis or muscle atrophy. “There is currently no cure, and it is impossible to reach a conclusive diagnosis during a patient’s lifetime because brain tissue must be examined.”explains Anja Schneider, researcher at the German Institute for Neurodegenerative Diseases (DZNE).
However, she and her team have shown for the first time that the majority of these pathologies could be detected early with simple blood tests, based on the measurement of certain proteins in the blood, which serve as biomarkers. While the procedure is not yet ready for routine medical use, it could in the future facilitate diagnosis and the development of new treatments.
Measuring levels of proteins associated with pathologies
As part of their work, published in the journal Nature Medicinethe researchers analyzed data and blood samples from 991 adults with DMT, ALS or PSP, or healthy adults (control group). “Tau and TDP-43 are known to play a key role in these diseases, as they form abnormal aggregates in the brain. The events differ between diseases, but our research suggests that blood levels of these proteins reflect these pathological processes.”they say in a communicated.
The scientists used a new – and more reliable – method to measure levels of proteins found not in blood plasma, but directly inside extracellular vesicles, the tiny bubbles of lipids secreted by the body’s cells. They found that a combination of the two biomarkers is necessary for the diagnosis of MTD (in its behavioral variant), while TDP-43 is sufficient for ALS and tau for PSP.
Blood test to better diagnose neurodegenerative diseases
“New blood test could provide decisive evidence for diagnosis,” estimate the authors of the project. In the long term, these biomarkers could be used routinely by doctors to detect a rare neurodegenerative disease, but in the meantime, further studies are needed to “to determine how these biomarkers develop during the disease and when their levels increase.”
