抗生素治疗无义突变所致的遗传性疾病  

The Effects of Antibiotics on Genetic Diseases Caused by Nonsense Mutations

作　　者：于海云[1] 浦介麟[1] 

机构地区：[1]中国医学科学院北京协和医学院阜外心血管病医院,北京100037

出　　处：《心血管病学进展》2013年第1期8-11,共4页Advances in Cardiovascular Diseases

基　　金：国家自然科学基金2011-2013(81070150)

摘　　要：无义突变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,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 a variety of genetic diseases. Nucleotide substitutions of triplet code which encodes amino acid may result in premature termination codons （PTCs）, thus generate incomplete protein and cause related diseases. Some antibiotics which can bind to the ribosome, such as aminoglycoside antibiotics and synthetic small molecules, enable the aminoacyl-tRNA readthrough of the PTCs to generate full length of proteins and restore their function, so that improve the disease conditions and provide implications for the treatment of genetic diseases caused by nonsense mutations.

关 键 词：无义突变 遗传性疾病 氨基糖苷类抗生素 

分 类 号：R596[医药卫生—内科学]