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Pharmacological and Genomic Approaches in Management of Cystic Fibrosis.
Critical Reviews in Eukaryotic Gene Expression ( IF 1.6 ) Pub Date : 2020-01-01 , DOI: 10.1615/critreveukaryotgeneexpr.2020030845
Muhammad Imran Qadir 1 , Iqra Ali Yameen 1
Affiliation  

Cystic fibrosis (CF) is an inherited recessive autosomal disorder that affects the lungs, the digestive system, and secretory glands. It is a lethal condition caused by a mutation in the gene cystic-fibrosis-transmembrane-conductance- regulator (CFTR), which leads to defects in ion channels and results in obstruction of mucus in airway channels. Unbalanced ion exchange causes impaired water transport and accumulation of viscous mucus in the air way leads to bacterial colonization, for example, with Staphylococcus aureus. The most common mutation is the deletion of nucleotides in epithelial membrane; hence, it is a multiple-organ−defective disease that mostly effects the lungs. Researchers are working on gene therapy that aims to introduce a normal CFTR gene copy into the epithelial cells of lungs. Several approaches have been designed to improve transepithelial ion transport in CF patients. Normal CFTR gene delivery has been performed using viral and nonviral vectors, but these approaches are not more efficient against the cell barriers. Enzymes may be used that inhibit the sphingolipid to provide proper microenvironment for the CFTR gene product. Thymosin alpha-1 has also been reported as a potential corrector in treatment of CF.

中文翻译:

囊性纤维化的药理和基因组方法。

囊性纤维化(CF)是一种遗传性隐性常染色体疾病,会影响肺,消化系统和分泌腺。这是一种致命性疾病,是由囊性纤维化-跨膜电导-调节基因(CFTR)突变引起的,导致离子通道缺陷并导致气道粘液阻塞。离子交换不平衡会导致水传输受损,并且粘性粘液在空气中的积累会导致细菌定植,例如金黄色葡萄球菌。最常见的突变是上皮膜核苷酸的缺失。因此,它是一种多器官缺陷性疾病,主要影响肺部。研究人员正在致力于将正常的CFTR基因拷贝引入肺上皮细胞的基因治疗。已经设计了几种方法来改善CF患者的经上皮离子转运。已经使用病毒和非病毒载体进行了正常的CFTR基因传递,但是这些方法对细胞壁垒的效率更高。可以使用抑制鞘脂的酶以为CFTR基因产物提供适当的微环境。胸腺素α-1也被报道为治疗CF的潜在校正剂。
更新日期:2020-01-01
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