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氨基糖苷类抗生素治疗无义突变致遗传性疾病的研究进展 被引量：2

The effects of aminoglycoside antibiotics on genetic diseases caused by nonsense mutations
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摘要 无义突变(nonsense mutation)可以导致多种遗传性疾病的发生。编码某一氨基酸的三联体密码经碱基替换后,产生提前终止的无义密码子(premature termination codons,PTCs),使肽链的合成提前终止,生成没有功能或者是功能不完整的蛋白质,导致了疾病的发生。研究发现,一些与核糖体结合的药物,如氨基糖苷类抗生素和某些人工合成的小分子物质,能够使氨基酰-tRNA通过提前出现的转录终止位点,产生完整的蛋白质并且恢复蛋白质的功能,从而改善疾病的症状,为治疗无义突变引起的遗传性疾病提供了广阔的前景。 Nonsense mutations can lead to the occurrence of a variety of genetic diseases. Nucleotide substitutions of triplet code which en- codes amino acid may result in premature termination codons （PTCs）, thus generate incomplete protein and cause some related diseases. Some drugs which can bind to the ribosome, such as aminoglycoside antibiotics and synthetic small molecules, enable the aminoacyl-tRNA readthough of the PTCs to generate complete proteins and restore their function. Studying about this provide implications for the treatment of genetic diseases caused by nonsense mutations.
作者 于海云 浦介麟
机构地区 北京协和医学院 中国医学科学院 国家心血管病中心 阜外心血管病医院 心血管疾病国家重点实验室
出处 《中国分子心脏病学杂志》 CAS 2012年第4期254-256,共3页 Molecular Cardiology of China
关键词 无义突变 遗传性疾病 PTCs 氨基糖苷类抗生素 Nonsense mutations Hereditary diseases PTCs Aminoglycoside antibiotics
分类号 R596 [医药卫生—内科学]
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参考文献29

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  • 2Howard, M., R.A. Frizzell and D.M. Bedwell, Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. NatMed,, 1996.2(4): p. 467-9.
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同被引文献32

  • 1Derichs N. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis [J]. Eur Respir Rev, 2013,22 (127) : 58-65.
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  • 9Vecsler M, Ben Z B, Nudelman I, et al. Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsensemutations [J]. Pl_oS One, 2011,6(6): e20733.
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中国分子心脏病学杂志
2012年 第4期

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