期刊
PHARMACOLOGICAL REPORTS
卷 72, 期 5, 页码 1227-1263出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s43440-020-00134-x
关键词
Duchenne muscular dystrophy; DMD; Gene therapy; Cell therapy; Induced pluripotent stem cells; CRISPR; Cas9
资金
- National Science Centre [2016/21/B/NZ1/00293, 2018/30/A/NZ3/00412]
- Ministry of Science and Higher Education [879/P-DUN/2019]
Background Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular childhood disorder that causes progressive muscle weakness and degeneration and results in functional decline, loss of ambulation and early death of young men due to cardiac or respiratory failure. Although the major cause of the disease has been known for many years-namely mutation in theDMDgene encoding dystrophin, one of the largest human genes-DMD is still incurable, and its treatment is challenging. Methods A comprehensive and systematic review of literature on the gene, cell, and pharmacological experimental therapies aimed at restoring functional dystrophin or to counteract the associated processes contributing to disease progression like inflammation, fibrosis, calcium signaling or angiogenesis was carried out. Results Although some therapies lead to satisfying effects in skeletal muscle, they are highly ineffective in the heart; therefore, targeting defective cardiac and respiratory systems is vital in DMD patients. Unfortunately, most of the pharmacological compounds treat only the symptoms of the disease. Some drugs addressing the underlying cause, like eteplirsen, golodirsen, and ataluren, have recently been conditionally approved; however, they can correct only specific mutations in theDMDgene and are therefore suitable for small sub-populations of affected individuals. Conclusion In this review, we summarize the possible therapeutic options and describe the current status of various, still imperfect, strategies used for attenuating the disease progression.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据