Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

被引：121

作者：

Dabrowski, Maciej ^{[1
]}

Bukowy-Bieryllo, Zuzanna ^{[1
]}

Zietkiewicz, Ewa ^{[1
]}

机构：

[1] Polish Acad Sci, Inst Human Genet, Poznan, Poland

来源：

MOLECULAR MEDICINE | 2018年 / 24卷

关键词：

Translational readthrough; Stop codon suppression; Nonsense suppression; Premature termination codon; Genetic diseases; MESSENGER-RNA DECAY; COGNATE TRANSFER-RNAS; RESTORES DYSTROPHIN EXPRESSION; INDUCED READ-THROUGH; MPS I-H; NONSENSE MUTATIONS; CYSTIC-FIBROSIS; STOP CODONS; POLYASPARTIC ACID; VII COLLAGEN;

D O I：

10.1186/s10020-018-0024-7

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

070307 [化学生物学]; 071010 [生物化学与分子生物学];

摘要：

Premature termination codons (PTCs) in the coding regions of mRNA lead to the incorrect termination of translation and generation of non-functional, truncated proteins. Translational readthrough of PTCs induced by pharmaceutical compounds is a promising way of restoring functional protein expression and reducing disease symptoms, without affecting the genome or transcriptome of the patient. While in some cases proven effective, the clinical use of readthrough-inducing compounds is still associated with many risks and difficulties. This review focuses on problems directly associated with compounds used to stimulate PTC readthrough, such as their interactions with the cell and organism, their toxicity and bioavailability (cell permeability; tissue deposition etc.). Various strategies designed to overcome these problems are presented.

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页数：15

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