背景:庆大霉素的临床应用始终在于其过去作为氨基糖苷类抗生素的抗微生物活性。然而,在过去的十年里,对治疗遗传性疾病的治疗方法有相当大的兴趣。某些遗传性皮肤病是由无义突变引起的,这些突变会产生过早的终止密码子,并导致产生截短的或非功能性蛋白质。庆大霉素可以诱导无义突变的读取,并能够合成全长蛋白质。我们专注于先前有关庆大霉素局部应用的出版物,并回顾了其在遗传性皮肤病中的应用。
方法:我们通过PubMed搜索MEDLINE,EMBASE数据库,和临床试验注册平台从1960年1月到2020年7月使用关键搜索词“庆大霉素,局部庆大霉素,遗传性皮肤病,遗传性皮肤病。“
结果:庆大霉素在遗传性皮肤病中的应用取得了有希望的结果,在体内和体外,包括长岛型掌足底角化病,大疱性表皮松解症,Hailey-Hailey病,遗传性单纯性头皮减少症,等。结论:局部使用庆大霉素是由无义突变引起的遗传性皮肤病的潜在治疗选择。
BACKGROUND: The clinical use of gentamicin always lies in its antimicrobial activity in the past as an aminoglycoside antibiotic. However, in the past decade, there were considerable interests in therapeutic approaches in treating hereditary diseases. Some of the genodermatosis is caused by nonsense mutations that create premature termination codons and lead to the production of truncated or non-functional proteins. Gentamicin could induce
readthrough of nonsense mutations and enable the synthesis of full-length proteins. We focus on previous publications on topical application of gentamicin and review its utility in genetic skin diseases.
METHODS: We search the MEDLINE through PubMed, EMBASE databases, and the Clinical Trials Registry Platform from January 1960 to July 2020 using the key search terms \"gentamicin, topical gentamicin, genodermatosis, genetic skin diseases\".
RESULTS: The application of gentamicin in genodermatosis yielded promising results, both in vivo and in vitro, including Nagashima-type palmoplantar keratosis, epidermolysis bullosa, Hailey-Hailey disease, hereditary hypotrichosis simplex of the scalp, etc. CONCLUSIONS: Topical gentamicin is a potential treatment option for genodermatosis caused by nonsense mutation.