[强直性肌营养不良]

[Myotonic dystrophy].

作者信息

Ishiura Shoichi, Oana Kosuke, Koebis Michinori

机构信息

Graduate School of Arts and Sciences, The University of Tokyo.

出版信息

Rinsho Shinkeigaku. 2013;53(11):1109-11. doi: 10.5692/clinicalneurol.53.1109.

DOI:10.5692/clinicalneurol.53.1109

PMID:24291894

Abstract

No effective treatment was available for myotonic dystrophy, even in animal model. We have established a new antisense oligonucleotide delivery to skeletal muscle of mice with bubble liposomes, and led to increased expression of chloride channel (CLCN1) protein and the amelioration of myotonia. In other experiments, we also identified small molecule compounds that correct aberrant splicing of Clcn1 gene. Manumycin A corrected aberrant splicing of Clcn1 in mouse model.

摘要

即使在动物模型中，强直性肌营养不良也没有有效的治疗方法。我们已经建立了一种利用气泡脂质体将反义寡核苷酸递送至小鼠骨骼肌的方法，并导致氯通道（CLCN1）蛋白表达增加以及肌强直症状得到改善。在其他实验中，我们还鉴定出了能够纠正Clcn1基因异常剪接的小分子化合物。马尼霉素A在小鼠模型中纠正了Clcn1的异常剪接。