外显子剪接在杜氏肌营养不良症中的应用。

Exon Snipping in Duchenne Muscular Dystrophy.

机构信息

Genetics and Genome Biology Program, the Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

Genetics and Genome Biology Program, the Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, Toronto, ON, Canada; Centre for Genetic Medicine, the Hospital for Sick Children, Toronto, ON, Canada.

出版信息

Trends Mol Med. 2016 Mar;22(3):187-189. doi: 10.1016/j.molmed.2016.01.007. Epub 2016 Feb 5.

DOI:10.1016/j.molmed.2016.01.007

PMID:26856237

Abstract

Duchenne muscular dystrophy (DMD) is a life-limiting neuromuscular disorder caused by mutations in the DMD gene encoding dystrophin. We discuss very recent studies that used CRISPR/Cas9 technology to 'snip out' mutated exons in DMD, restoring the reading frame of the gene. We also present cautionary aspects of translating this exciting technology into clinical practice.

摘要

杜氏肌营养不良症（DMD）是一种由编码肌营养不良蛋白的 DMD 基因突变引起的危及生命的神经肌肉疾病。我们讨论了最近使用 CRISPR/Cas9 技术“剪断”DMD 中突变的外显子，从而恢复基因可读框的研究。我们还介绍了将这一令人兴奋的技术转化为临床实践时需要谨慎考虑的方面。