Padmaswari Made Harumi, Agrawal Shilpi, Jia Mary S, Ivy Allie, Maxenberger Daniel A, Burcham Landon A, Nelson Christopher E
Department of Biomedical Engineering, University of Arkansas, Fayetteville, Arkansas 72701, USA.
Biophys Rev (Melville). 2023 Mar;4(1):011307. doi: 10.1063/5.0131452. Epub 2023 Feb 21.
Duchene muscular dystrophy (DMD) is an X-linked neuromuscular disorder that affects about one in every 5000 live male births. DMD is caused by mutations in the gene that codes for dystrophin, which is required for muscle membrane stabilization. The loss of functional dystrophin causes muscle degradation that leads to weakness, loss of ambulation, cardiac and respiratory complications, and eventually, premature death. Therapies to treat DMD have advanced in the past decade, with treatments in clinical trials and four exon-skipping drugs receiving conditional Food and Drug Administration approval. However, to date, no treatment has provided long-term correction. Gene editing has emerged as a promising approach to treating DMD. There is a wide range of tools, including meganucleases, zinc finger nucleases, transcription activator-like effector nucleases, and, most notably, RNA-guided enzymes from the bacterial adaptive immune system clustered regularly interspaced short palindromic repeats (CRISPR). Although challenges in using CRISPR for gene therapy in humans still abound, including safety and efficiency of delivery, the future for CRISPR gene editing for DMD is promising. This review will summarize the progress in CRISPR gene editing for DMD including key summaries of current approaches, delivery methodologies, and the challenges that gene editing still faces as well as prospective solutions.
杜氏肌营养不良症(DMD)是一种X连锁神经肌肉疾病,每5000例活产男婴中约有1例受其影响。DMD是由编码抗肌萎缩蛋白的基因突变引起的,而抗肌萎缩蛋白是稳定肌膜所必需的。功能性抗肌萎缩蛋白的缺失会导致肌肉退化,进而导致虚弱、行走能力丧失、心脏和呼吸并发症,并最终导致过早死亡。在过去十年中,治疗DMD的疗法取得了进展,临床试验中的治疗方法以及四种外显子跳跃药物获得了美国食品药品监督管理局的有条件批准。然而,迄今为止,尚无治疗方法能提供长期矫正。基因编辑已成为治疗DMD的一种有前景的方法。有多种工具,包括归巢核酸内切酶、锌指核酸酶、转录激活样效应物核酸酶,最值得注意的是来自细菌适应性免疫系统的成簇规律间隔短回文重复序列(CRISPR)的RNA引导酶。尽管在人类中使用CRISPR进行基因治疗仍存在诸多挑战,包括递送的安全性和效率,但CRISPR基因编辑治疗DMD的前景广阔。本综述将总结CRISPR基因编辑治疗DMD的进展,包括当前方法、递送方法的关键总结,以及基因编辑仍面临的挑战和潜在解决方案。