Base editing-mediated splicing correction therapy for spinal muscular atrophy

• 作者: Erwei Zuo Haizhu Chen Hui Yang Jin-Jinq Li Lixiang Ma Lu-Lu Lai Ning Wang Shunyan Hong Wan-Jin Chen Wenqin Ying Xiang Lin Xinde Hu Yanxia Gao Ying-Qian Lu Zishuai Wang
• 来源期刊: 细胞研究（英文版）
• 年，卷（期）: 2020,（6）
• 页码范围: 548-550
• 页数: 3页
• 语种: 英文

摘要

Dear Editor, Spinal muscular atrophy (SMA) is a devastating autosomal recessive motor neuron disease.1,2 Infants with more severe forms of type I SMA die before the age of 2 if no intervention is provided.1,2 Spinraza and zolgensma have been approved by the FDA as SMA therapeutics for pediatric patients.1,2 However, as an antisense oligonucleotide (ASO) based therapy, spinraza requires four loading doses, followed by three annual maintenance doses.The patients would be subjected to repeated intrathecal injections in the procedure.Zolgensma is a single-dose gene-replacement therapy for SMA, but unfortunately is unreliable in maintaining a high, stable level of gene expression.These issues have limited the therapeutic effects of the two approved drugs for SMA.