Volume 30, No 6, Jun 2020

ISSN: 1001-0602 
EISSN: 1748-7838 2018 
impact factor 17.848* 
(Clarivate Analytics, 2019)

Volume 30 Issue 6, June 2020: 548-550

LETTERS TO THE EDITOR

Base editing-mediated splicing correction therapy for spinal muscular atrophy

Xiang Lin^1,2 , Haizhu Chen¹ , Ying-Qian Lu¹ , Shunyan Hong¹ , Xinde Hu³ , Yanxia Gao³ , Lu-Lu Lai¹ , Jin-Jing Li¹ , Zishuai Wang⁴ , Wenqin Ying³ , Lixiang Ma⁵ , Ning Wang^1,2 , Erwei Zuo^4,* , Hui Yang^3,* , Wan-Jin Chen^1,2,*

¹Department of Neurology and Institute of Neurology, First Affiliated Hospital, Institute of Neuroscience, Fujian Medical University, Fuzhou 350005, China
²Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou 350005, China
³Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai Research Center for Brain Science and Brain-Inspired Intelligence, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China
⁴Lingnan Guangdong Laboratory of Modern Agriculture, Genome Analysis Laboratory of the Ministry of Agriculture, Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, Shenzhen 518124, China
⁵Department of Anatomy, Histology & Embryology, Shanghai Medical College, Fudan University, Shanghai 200032, China
These authors contributed equally: Xiang Lin, Haizhu Chen, YingQian Lu, Shunyan Hong, Xinde Hu Correspondence: Erwei Zuo(erweizuo@163.com)Hui Yang(huiyang@ion.ac.cn)Wan-Jin Chen(wanjinchen75@fjmu.edu.cn)

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.

https://doi.org/10.1038/s41422-020-0304-y

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