【摘要】 肝脏是人体主要的物质代谢器官,在机体能量代谢和稳态维持方面承担着重要责任。由基因突变引起的肝脏遗传代谢病对机体生命健康造成非常大的威胁。相较于传统的治疗方法,基因治疗能够针对致病突变进行根源性治疗。CRISPR/Cas9基因编辑技术"一次递送终生治疗"的特点为肝脏遗传代谢病的长期持续治疗带来了希望。基于CRISPR/Cas9的碱基编辑系统使得之前不能实现或难以实现的基因组点突变精确修复得以高效实现,在肝脏遗传代谢病的治疗中具有非常大的应用潜力。更多还原

【Abstract】 As a central metabolic organ of the body, liver plays a critical role in energy metabolism and homeostasis. Inherited liver metabolic diseases caused by gene mutation pose threaten to people’s health and life. In contrast to traditional treatments, gene therapy targets pathogenic mutations and holds promise for the treatment of inherited metabolic disease. The development and application of CRISPR/Cas9 gene editing tools provide long-lasting clinical benefit in the treatment of inherited liver metabolic disorders. Base editors derived from CRISPR/Cas9 can correct pathogenic point mutations efficiently and precisely, which could not be achieved before, exhibiting great potential in the treatment of liver inherited metabolic disorders.更多还原