Related Experiment Video
Updated: Aug 15, 2026
Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome
Published on: September 13, 2024
Diseases of unstable repeat expansion: mechanisms and common principles
Jennifer R Gatchel1, Huda Y Zoghbi
1Department of Neuroscience, Medical Scientist Training Program, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.
Abstract:
The list of developmental and degenerative diseases that are caused by expansion of unstable repeats continues to grow, and is now approaching 20 disorders. The pathogenic mechanisms that underlie these disorders involve either loss of protein function or gain of function at the protein or RNA level. Common themes have emerged within and between these different classes of disease; for example, among disorders that are caused by gain-of-function mechanisms, altered protein conformations are central to pathogenesis, leading to changes in protein activity or abundance. In all these diseases, the context of the expanded repeat and the abundance, subcellular localization and interactions of the proteins and RNAs that are affected have key roles in disease-specific phenotypes.
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