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首页> 外文期刊>Human Molecular Genetics >Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines
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Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines

机译：使用反义寡核苷酸校正ISCU肌病患者细胞系中的剪接误差

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摘要

ISCU myopathy is an inherited disease that primarily affects individuals of northern Swedish descent who share a single point mutation in the fourth intron of the ISCU gene. The current study shows correction of specific phenotypes associated with disease following treatment with an antisense oligonucleotide (ASO) targeted to the site of the mutation. We have shown that ASO treatment diminished aberrant splicing and increased ISCU protein levels in both patient fibroblasts and patient myotubes in a concentration dependent fashion. Upon ASO treatment, levels of SDHB in patient myotubular cell lines increased to levels observed in control myotubular cell lines. Additionally, we have shown that both patient fibroblast and myotubular cell lines displayed an increase in complex II activity with a concomitant decrease in succinate levels in patient myotubular cell lines after ASO treatment. Mitochondrial and cytosolic aconitase activities increased significantly following ASO treatment in patient myotubes. The current study suggests that ASO treatment may serve as a viable approach to correcting ISCU myopathy in patients.
机译：ISCU肌病是一种遗传疾病，主要影响北部瑞典血症的个体，他们在ISCU基因的第四个内含子中分享单点突变。目前的研究表明，用靶向突变部位的反义寡核苷酸（ASO）处理与疾病相关的特定表型的校正。我们已经表明，ASO治疗从浓度依赖性时尚的患者成纤维细胞和患者肌管中的异常剪接和增加的ISCU蛋白水平降低。在ASO治疗中，患者中SDHB的水平肌瘤细胞系的水平增加至对照肌瘤细胞系中观察到的水平。另外，我们已经表明，患者成纤维细胞和肌瘤细胞系均显示综合II活性的增加，伴随在ASO治疗后患者肌瘤细胞系中的琥珀酸琥珀酸盐水平伴随。在患者Myotubes中的ASO治疗后，线粒体和细胞溶质肌酶活性显着增加。目前的研究表明，ASO治疗可以作为纠正患者ISCU肌病的可行方法。

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