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纠正导致囊性纤维化的突变 F508del-CFTR 基本转运缺陷的校正因子。

Correctors of the basic trafficking defect of the mutant F508del-CFTR that causes cystic fibrosis.

机构信息

Respiratory TA, GlaxoSmithKline, Gunnels Wood Road, Stevenage, Hertfordshire SG1 2NY, UK.

出版信息

Curr Opin Chem Biol. 2013 Jun;17(3):353-60. doi: 10.1016/j.cbpa.2013.04.020. Epub 2013 May 24.

DOI:10.1016/j.cbpa.2013.04.020
PMID:23711435
Abstract

Cystic fibrosis (CF) is the most frequent lethal genetic disease and the most frequent mutation is F508del-cystic fibrosis transmembrane regulator (CFTR). In common with some other protein trafficking diseases the mutant protein is functional but recognized by the cellular quality control system retained in the endoplasmic reticulum (ER) and degraded. There have been some recent impressive advances in developing corrector compounds that restore the trafficking of the mutant protein to the plasma membrane. The targets of these correctors and possible mechanisms of action are discussed.

摘要

囊性纤维化（CF）是最常见的致命性遗传疾病，最常见的突变是 F508del-囊性纤维化跨膜转导调节因子（CFTR）。与其他一些蛋白转运疾病一样，突变蛋白具有功能，但被细胞质量控制系统识别，滞留在内质网（ER）中并被降解。最近在开发校正化合物方面取得了一些令人瞩目的进展，这些化合物可以恢复突变蛋白向质膜的转运。本文讨论了这些校正物的作用靶点和可能的作用机制。

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