囊性纤维化跨膜传导调节剂的加工和转运缺陷。

K Kunzelmann, R Nitschke
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引用次数: 10

摘要

在大多数上皮组织中,Cl(-)转运依赖于囊性纤维化跨膜传导调节剂(CFTR), CFTR具有Cl(-)通道和其他离子通道调节剂的双重功能。超过900种不同的CFTR基因突变是囊性纤维化中Cl(-)和Na(+)运输缺陷和电解质分泌或吸收受损的原因。然而,CFTR突变δ F508是高加索人群中常见遗传性疾病的最常见原因。delta F508-CFTR的成熟和加工存在缺陷,导致在细胞膜中仅表达少量但具有功能的CFTR。了解CFTR的加工和贩运可能会为如何增强delta F508-CFTR的表达和剩余功能提供线索,并可能导致开发新的药物工具来治疗囊性纤维化。
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Defects in processing and trafficking of cystic fibrosis transmembrane conductance regulator.

In most epithelial tissues Cl(-) transport relies on the cystic fibrosis transmembrane conductance regulator (CFTR) which has dual function as a Cl(-) channel and as a regulator of other ion channels. More than 900 different mutations in the CFTR gene are the cause for defective transport of Cl(-) and Na(+) and impaired secretion or absorption of electrolytes in cystic fibrosis. However, the CFTR mutation delta F508 is the most common reason for the frequently inherited disease among the Caucasian population. Maturation and processing of delta F508-CFTR is defective which leads to expression of only very little but functional CFTR in the cell membrane. Understanding the processing and trafficking of CFTR may give a clue to the question as to how the expression and residual function of delta F508-CFTR can be enhanced, and may lead to the development of new pharmacological tools for the treatment of cystic fibrosis.

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