Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase.

ABSTRACT: Unstable DNA repeat expansions and insertions have been found to cause more than 50 neurodevelopmental, neurodegenerative, and neuromuscular disorders. One of the main hallmarks of repeat expansion diseases is the formation of abnormal RNA or protein aggregates in the neuronal cells of affected individuals. Recent evidence indicates that alterations of the dynamic or material properties of biomolecular condensates assembled by liquid/liquid phase separation are critical for the formation of these aggregates. This is a thermodynamically-driven and reversible local phenomenon that condenses macromolecules into liquid-like compartments responsible for compartmentalizing molecules required for vital cellular processes. Disease-associated repeat expansions modulate the phase separation properti

SUBMITTER: Figueiredo AS 

PROVIDER: S-EPMC10047669 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature