Pathogenic Expanded CUG Repeat RNA (r(CUG)^exp)

Pathogenic expanded CUG repeat RNAs are structured non-coding regions within certain transcripts that cause disease primarily through toxic gain-of-function at the RNA level. Their unique structure enables them to aberrantly interact with key cellular proteins leading to widespread dysregulation—most prominently seen in myotonic dystrophy type 1—and they represent an important target for therapeutic intervention using structure-specific molecules or nucleic acid-based drugs.

Other names

Expanded CUG repeatsCUG repeat RNAr(CUG)exp tractsMutant DMPK mRNA

Disrupts protein sequestration; promotes selective degradation/cleavage of mutant transcripts; modifies RNA structure