Deficient skin proteins rescue of expression in patients with epidermolysis bullosa: efficacy of gentamicin

Q4 Medicine
O. G. Artamonova, A. Karamova, A. Kubanov, V. Chikin, E. Monchakovskaya
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引用次数: 0

Abstract

Epidermolysis bullosa is a group of rare hereditary skin diseases based on mutations in the genes of structural proteins of the epidermis and the dermal-epidermal junction. Clinically, epidermolysis bullosa is characterized by the appearance of erosions and blisters on the skin and mucous membranes in response to any minor impact. Currently, the treatment of epidermolysis bullosa is only symptomatic. Pathogenetic methods of the epidermolysis bullosa therapy are under development. One of the new possible pathogenetic directions in the treatment of epidermolysis bullosa is aminoglycoside antibiotics (gentamicin, geneticin, paromomycin). A number of studies have shown the ability of gentamicin to promote readthrough terminating codon and resume the synthesis of type VII collagen in keratinocytes and fibroblasts in patients with epidermolysis bullosa with nonsense mutations in the COL7A1. The review presented the possibilities of gentamicin therapy for patients with epidermolysis bullosa, describes the mechanism of its action, summarizes data from clinical trials.
大疱性表皮松解症患者皮肤蛋白表达缺陷的挽救:庆大霉素的疗效
大疱性表皮松解症是一组罕见的遗传性皮肤病,病因是表皮和真皮-表皮交界处结构蛋白的基因突变。在临床上,大疱性表皮松解症的特征是皮肤和粘膜在受到任何轻微撞击时都会出现糜烂和水疱。目前,治疗大疱性表皮松解症的方法只是对症治疗。治疗大疱性表皮松解症的病原学方法正在开发中。治疗大疱性表皮松解症的新病原学方向之一是氨基糖苷类抗生素(庆大霉素、基因素、副霉素)。许多研究表明,庆大霉素能促进COL7A1无义突变的表皮松解症患者的角质细胞和成纤维细胞中终止密码子的读取,并恢复Ⅶ型胶原的合成。综述介绍了庆大霉素治疗大疱性表皮松解症患者的可能性,描述了庆大霉素的作用机制,总结了临床试验数据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
0.80
自引率
0.00%
发文量
40
审稿时长
8 weeks
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