治疗杜氏肌营养不良的新药——依替来生

A new drug for treatment of Duchenne muscular dystrophy—eteplirsen

杜氏肌营养不良是由于编码抗肌萎缩蛋白的基因突变引起,抗肌萎缩蛋白可避免肌肉收缩放松过程中的肌肉细胞损伤。依替来生为一种反义寡核苷酸,作用于抗肌萎缩蛋白前体信使RNA,使其在转录过程中跳过外显子51,从而使杜氏肌营养不良患者产生了缩短的但具有一定功能的肌营养不良蛋白。依替来生由Sarepta制药公司开发,于2016年9月获美国食品和药物管理局加速批准,用于治疗杜氏肌营养不良。最常见的不良反应主要包括平衡失调、恶心及接触性皮炎等。

Duchenne muscular dystrophy（ DMD） is caused by mutations in the dystrophin gene that encodes dystrophin, a structural protein that protects muscles from strain-induced injury. Eteplirsen is an antisense oligonucleotide that targets dystrophin pre-m RNA and induces exon 51 skipping. This allows for production of an internally truncated, but functional dystrophin in patients with DMD. It was developed by Sarepta therapeutics and received accelerated approval from the U.S. FDA in September 2016 for the treatment of DMD. The most common adverse reactions were balance disorder, vomiting, contact dermatitis and so on.