Myotonic dystrophy 1 (DM1) is a multisystemic neuromuscular disease caused by a dominantly inherited ‘CTG’ repeat expansion in the gene encoding DM Protein Kinase (DMPK). The repeats are transcribed into mRNA, which forms hairpins and binds with high affinity to the Muscleblind-like (MBNL) family of proteins, sequestering them from their normal function. The loss of function of MBNL proteins causes numerous downstream effects, primarily the appearance of nuclear foci, mis-splicing, and ultimately myotonia and other clinical symptoms. Antisense and other RNA-mediated technologies have been applied to target toxic-repeat mRNA transcripts to restore MBNL protein function in DM1 models, such as cells and mice, and in humans. This technique has had promising results in DM1 therapeutics by alleviating pathogenic phenotypes.

肌强直性营养不良1（DM1）是一种多系统性神经肌肉疾病，由编码DM蛋白激酶（DMPK）的基因中显性遗传的“ CTG”重复扩增引起）。重复序列被转录成mRNA，形成发夹并与Musblblind-like（MBNL）蛋白家族具有高亲和力，从而使其无法正常发挥功能。MBNL蛋白功能的丧失会引起许多下游效应，主要是核灶的出现，错接，最终导致肌强直和其他临床症状。反义和其他RNA介导的技术已被用于靶向毒性重复的mRNA转录本，以恢复DM1模型（例如细胞和小鼠）以及人类的MBNL蛋白功能。通过减轻致病表型，该技术在DM1治疗中取得了可喜的成果。