School of Biomedicine and Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.
Genome Editing Program, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.
WIREs Mech Dis. 2023 Jan;15(1):e1580. doi: 10.1002/wsbm.1580. Epub 2022 Jul 31.
CRISPR gene-editing technology creates precise and permanent modifications to DNA. It has significantly advanced our ability to generate animal disease models for use in biomedical research and also has potential to revolutionize the treatment of genetic disorders. Duchenne muscular dystrophy (DMD) is a monogenic muscle-wasting disease that could potentially benefit from the development of CRISPR therapy. It is commonly associated with mutations that disrupt the reading frame of the DMD gene that encodes dystrophin, an essential scaffolding protein that stabilizes striated muscles and protects them from contractile-induced damage. CRISPR enables the rapid generation of various animal models harboring mutations that closely simulates the wide variety of mutations observed in DMD patients. These models provide a platform for the testing of sequence-specific interventions like CRISPR therapy that aim to reframe or skip DMD mutations to restore functional dystrophin expression. This article is categorized under: Congenital Diseases > Genetics/Genomics/Epigenetics.
CRISPR 基因编辑技术可对 DNA 进行精确且永久性的修饰。它极大地提高了我们生成用于生物医学研究的动物疾病模型的能力，也有可能彻底改变遗传疾病的治疗方法。杜氏肌营养不良症（DMD）是一种单基因肌肉消耗疾病，可能受益于开发 CRISPR 疗法。它通常与破坏 DMD 基因阅读框的突变有关，该基因编码肌营养不良蛋白，是一种必不可少的支架蛋白，可稳定横纹肌并防止其受到收缩引起的损伤。CRISPR 可快速生成各种携带突变的动物模型，这些突变非常类似于 DMD 患者中观察到的多种突变。这些模型为测试序列特异性干预措施（如 CRISPR 疗法）提供了一个平台，这些措施旨在重新构建或跳过 DMD 突变，以恢复功能性肌营养不良蛋白的表达。本文归类于：先天性疾病 > 遗传学/基因组学/表观遗传学。
