The present invention establishes a molecular therapy for glycogen storage disease type Ia. The present invention provides an oligonucleotide of 15-30 bases comprising a nucleotide sequence complementary to the cDNA of G6PC gene with c.648G>T mutation, wherein the oligonucleotide comprises a sequence complementary to a region comprising any site between the 82nd to the 92nd nucleotide from the 5' end of exon 5 of the G6PC gene with c.648G>T mutation, a pharmacologically acceptable salt or solvate thereof. Also provided is a pharmaceutical drug comprising the oligonucleotide, a pharmacologically acceptable salt or solvate thereof (e.g., therapeutic drug for glycogen storage disease type Ia).
本发明确立了一种治疗
糖原贮积病 Ia 型的分子疗法。本发明提供了一种15-30个碱基的寡核苷酸,该寡核苷酸包含与c.648G>T突变的G6PC
基因cDNA互补的核苷酸序列,其中该寡核苷酸包含与c.648G>T突变的G6PC
基因外显子5的5'端第82个核苷酸至第92个核苷酸之间的任意位点组成的区域互补的序列、其药理学上可接受的盐或溶液。还提供了一种包含寡核苷酸、其药理学上可接受的盐或溶解物的药物(例如,
糖原贮积病 Ia 型的治疗药物)。