Liquid–Liquid Phase Separation in Disease
2019/08/20 by Simon Alberti, Dorothee Dormann · 963 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Biology #Computational biology #Disease #Environmental health #Gene #Genetics #Heat shock proteins research #Human disease #Human health #Intensive care medicine #Medicine #Neurodegeneration #Neuroscience #Nuclear Structure and Function #Pathology #RNA Research and Splicing #Risk analysis (engineering)
paper · doi:10.1146/annurev-genet-112618-043527
published in Annual Review of Genetics 53(1), 171-194 (Annual Reviews)
openalex publication_date 2019/08/20 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/05
Abstract
We have made rapid progress in recent years in identifying the genetic causes of many human diseases. However, despite this recent progress, our mechanistic understanding of these diseases is often incomplete. This is a problem because it limits our ability to develop effective disease treatments. To overcome this limitation, we need new concepts to describe and comprehend the complex mechanisms underlying human diseases. Condensate formation by phase separation emerges as a new principle to explain the organization of living cells. In this review, we present emerging evidence that aberrant forms of condensates are associated with many human diseases, including cancer, neurodegeneration, and infectious diseases. We examine disease mechanisms driven by aberrant condensates, and we point out opportunities for therapeutic interventions. We conclude that phase separation provides a useful new framework to understand and fight some of the most severe human diseases.
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