Dębczyński Michał, Mojsak Damian, Minarowski Łukasz, Maciejewska Monika, Lisowski Paweł, Mróz Robert M
II Department of Lung Diseases and Tuberculosis, Medical University of Bialystok, Bialystok, Poland.
II Department of Lung Diseases and Tuberculosis, Medical University of Bialystok, Bialystok, Poland.
Adv Med Sci. 2023 Mar;68(1):111-120. doi: 10.1016/j.advms.2023.02.003. Epub 2023 Mar 12.
Cystic fibrosis (CF) is an autosomal recessive disease caused by defects in the CF transmembrane conductance regulator (CFTR) protein. Due to the genetic nature of the disease, interventions in the genome can target any underlying alterations and potentially provide permanent disease resolution. The current development of gene-editing tools, such as designer nuclease technology capable of genome correction, holds great promise for both CF and other genetic diseases. In recent years, Cas9-based technologies have enabled the generation of genetically defined human stem cell and disease models based on induced pluripotent stem cells (iPSC). In this article, we outline the potential and possibilities of using CRISPR/Cas9-based gene-editing technology in CF modeling.
囊性纤维化（CF）是一种常染色体隐性疾病，由囊性纤维化跨膜传导调节因子（CFTR）蛋白缺陷引起。由于该疾病的遗传特性，对基因组的干预可以针对任何潜在的改变，并有可能实现疾病的永久治愈。目前基因编辑工具的发展，如能够进行基因组校正的设计核酸酶技术，为CF及其他遗传疾病带来了巨大希望。近年来，基于Cas9的技术使得基于诱导多能干细胞（iPSC）生成基因定义的人类干细胞和疾病模型成为可能。在本文中，我们概述了在CF建模中使用基于CRISPR/Cas9的基因编辑技术的潜力和可能性。
