2021 年 38 巻 3 号 p. 283-285
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, caused by unstable genomic expansions of CTG repeats. The mutant RNA transcripts containing expanded repeats cause a toxic gain–of–function by perturbing splicing factors in the nucleus, resulting in misregulation of alternative pre–mRNA splicing. Recent advances in basic and translational research and pharmacological approaches provide clues for therapeutic intervention in DM. Here, we review the therapeutic approaches for targeting the toxic RNA with antisense oligonucleotides and small molecules.
