Hunting down misfolded proteins: seed amplification assays in neurodegenerative diseases (Neuro-SysMed)

Neurodegenerative diseases, including prion diseases, Alzheimer’s disease and other dementias, Parkinson’s disease, and motor neuron diseases, are characterized by the pathological accumulation of misfolded proteins in the brain, which serve as disease-specific biomarkers (DSBs). However, their clinical diagnosis remains challenging, particularly in the early stages, due to the lack of reliable peripheral biomarkers. Identifying disease-specific and peripheral biomarkers is crucial for enabling early detection, improving prognosis, and monitoring disease progression. A major breakthrough in this field is the development of Seed Amplification Assays (SAAs), highly sensitive techniques such as Protein Misfolding Cyclic Amplification (PMCA) and Real-Time Quaking-Induced Conversion (RT-QuIC). These methods allow for the detection of misfolded proteins in peripheral tissues, providing a powerful tool for early and differential diagnosis. This seminar will explore the key applications of SAAs in neurodegenerative disease research and highlight their transformative potential in clinical diagnostics. Fabio Moda will introduce the fundamental principles of SAAs and their applications in diagnosing neurodegenerative diseases. Arianna Ciullini will present some of the latest findings from the Specialized Biochemistry Laboratory of Neurological Proteinopathies, directed by Fabio Moda at Carlo Besta Institute in Milan.