Unique Techniques Used or Developed
Keyword: Therapeutic splice redirection of MLH3 isoforms

Details:  MutL-gamma, a minor mismatch repair component comprised of MLH1-MLH3 heterodimers, is the active agent in DNA repeat expansion. We showed that MLH3 isoform 1 contributes to DNA repeat expansion, but that MLH3 isoform 2 does not. The two isoforms differ by one small exon, and exclusion of this exon by oligonucleotide mediated splice redirection can slow or stop DNA repeat expansion. As a therapeutic approach, MLH3 splice redirection has the potential to treat many if not all the DNA repeat expansion disorders.