Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Program in Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
Trends Neurosci. 2023 May;46(5):365-376. doi: 10.1016/j.tins.2023.02.005. Epub 2023 Mar 10.
Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by a trinucleotide repeat expansion in the huntingtin gene resulting in long stretches of polyglutamine repeats in the huntingtin protein. The disease involves progressive degeneration of neurons in the striatum and cerebral cortex resulting in loss of control of motor function, psychiatric problems, and cognitive deficits. There are as yet no treatments that can slow disease progression in HD. Recent advances in gene editing using clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9) systems and demonstrations of their ability to correct gene mutations in animal models of a range of diseases suggest that gene editing may prove effective in preventing or ameliorating HD. Here we describe (i) potential CRISPR-Cas designs and cellular delivery methods for the correction of mutant genes that cause inherited diseases, and (ii) recent preclinical findings demonstrating the efficacy of such gene-editing approaches in animal models, with a focus on HD.
亨廷顿病(HD)是一种显性遗传性神经退行性疾病,由亨廷顿基因中的三核苷酸重复扩展引起,导致亨廷顿蛋白中出现长串的多谷氨酰胺重复。该疾病涉及纹状体和大脑皮层神经元的进行性退化,导致运动功能失控、精神问题和认知缺陷。目前尚无能够减缓 HD 疾病进展的治疗方法。最近,使用成簇规律间隔短回文重复序列(CRISPR)-CRISPR 相关蛋白 9(Cas9)系统进行基因编辑的进展以及在一系列疾病的动物模型中证明其纠正基因突变的能力表明,基因编辑可能在预防或改善 HD 方面是有效的。在这里,我们描述了(i)用于纠正导致遗传性疾病的突变基因的潜在 CRISPR-Cas 设计和细胞递送方法,以及(ii)最近的临床前研究结果,证明了这些基因编辑方法在动物模型中的有效性,重点是 HD。