Study of an RNA-Focused DNA-Encoded Library Informs Design of a Degrader of a r(CUG) Repeat Expansion

J Am Chem Soc. 2022 Dec 7;144(48):21972-21979. doi: 10.1021/jacs.2c08883. Epub 2022 Nov 18.

Abstract

A solid-phase DNA-encoded library (DEL) was studied for binding the RNA repeat expansion r(CUG)exp, the causative agent of the most common form of adult-onset muscular dystrophy, myotonic dystrophy type 1 (DM1). A variety of uncharged and novel RNA binders were identified to selectively bind r(CUG)exp by using a two-color flow cytometry screen. The cellular activity of one binder was augmented by attaching it with a module that directly cleaves r(CUG)exp. In DM1 patient-derived muscle cells, the compound specifically bound r(CUG)exp and allele-specifically eliminated r(CUG)exp, improving disease-associated defects. The approaches herein can be used to identify and optimize ligands and bind RNA that can be further augmented for functionality including degradation.

MeSH terms

  • DNA* / chemistry
  • DNA* / genetics
  • Gene Library*
  • Humans
  • Muscle Cells
  • Myotonic Dystrophy* / genetics
  • Myotonic Dystrophy* / therapy
  • RNA Stability*
  • RNA* / chemistry
  • RNA* / genetics
  • Trinucleotide Repeat Expansion*

Substances

  • DNA
  • RNA