Liquid-liquid phase separation (LLPS) of intrinsically disordered proteins or protein regions plays a pivotal role in a variety of biological processes and human diseases.[1,2] Insights into the liquid condensate formation via LLPS and the subsequent liquid-to-solid (LST) phase transition are therefore crucial for understanding the mechanisms of pathological aggregation into fibrillar amyloid-type structures, a phenomenon that has been associated with a variety of neurodegenerative diseases.[3] However, despite its importance, a molecular picture of the LST process inside the phase-separated droplets is still missing.
This contribution reports on a comprehensive investigation of liquid-droplet maturation processes by time-resolved solid-state NMR spectroscopy, in combination with solution-state NMR, and light and electron microscopies. Short peptide derivatives undergoing both LLPS and subsequent LST are discussed as model systems. Amyloid-like fibrils are formed upon LST and allow us establishing proof-of-concept methods.[4] In particular, a comparison across the condensed state for various constructs of the peptide derivatives highlights the important role of noncovalent interactions in the LST processes.
The discussion is then extended to LLPS phenomena of the RNA-binding protein Fused in Sarcoma (FUS), for which aberrant phase transition can lead to the formation of pathological aggregates. Such aggregates are considered as hallmarks of neurodegenerative diseases such as Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD).[5] The kinetics of FUS liquid droplets maturation into solid fibril species can be followed by real-time solid-state NMR, namely by detecting immobilized as well as highly mobile components with cross-polarization (CP) and Insensitive Nuclei Enhancement by Polarization Transfer (INEPT) experiments, respectively. Furthermore, two- and three-dimensional solid-state NMR experiments were recorded to characterize the molecular structure of the matured solid material formed during LST. The study sets the stage for characterizing the elusive transformations in structure and dynamics of proteins undergoing phase transitions from the liquid-droplet to the final fibrillar aggregate state.