相关实验视频

Updated: Jun 21, 2025

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

对人类鼻上皮细胞中CFTR功能的研究,为个性化医学提供了信息

Audrey Pion¹, Erin Kavanagh¹, Anya T Joynt¹

¹Department of Genetic Medicine.

American journal of respiratory cell and molecular biology

|July 16, 2024

概括

人鼻上皮细胞 (HNE) 显示出引导囊性纤维化转膜导电调节器 (CFTR) 调节器治疗的潜力. HNE功能研究可以帮助诊断轻度CF,并预测各种CFTR变异的治疗反应.

科学领域:

细胞生物学细胞生物学
遗传学是一个遗传学.
呼吸系统医学呼吸系统医学

背景情况:

囊性纤维化 (CF) 是一种由CFTR基因突变引起的遗传疾病.
个性化医疗方法对于优化CF患者多种CFTR变异的治疗至关重要.
人鼻上皮细胞 (HNE) 为研究CFTR功能和药物反应提供了有价值的体外模型.

研究的目的:

评估HNE细胞在评估CFTR功能中的临床实用性.
为了确定具有罕见CFTR变异的HNE细胞对CFTR调节器的反应.
探索HNE功能研究作为轻度CF诊断工具的潜力.

主要方法:

从10名患有罕见CFTR变异的参与者中分离出HNE细胞.
细胞在空气-液体接口区分,并使用Ussing腔室测量CFTR功能.
在基线和对ivacaftor或elexacaftor/tezacaftor/ivacaftor (ETI) 的反应中评估了CFTR功能.

主要成果:

来自患有Q359R和G480S变异的参与者的HNE细胞显示CFTR功能与调节器增加,与临床改善相关.
R334W变异HNEs对调节剂表现出中度反应,其中一名参与者表现出体内改善.
R560T变异HNEs显示没有反应,与错误拼接一致,而R117H;7T;TG10/5T;TG12 HNEs促进了轻度CF诊断,并对调节器作出反应.

结论:

对于指导CFTR调节器治疗和预测治疗结果,HNE细胞功能研究具有多样性.
在罕见的变异中,HNEs可以准确评估CFTR功能,并为个性化治疗策略提供信息.
HNE功能测定显示出作为诊断测试用于识别轻度CF病例的临床诊断.

关键词:

5T 5T 5T 5T 5T 5T 5T 5T 5T 5T 5T 5T 5T 空气-液体接口接口囊性纤维化症是什么模块化器是一个模块化器.鼻子上皮质上皮质.

更多相关视频

Primary Human Nasal Epithelial Cells: Biobanking in the Context of Precision Medicine

Primary Human Nasal Epithelial Cells: Biobanking in the Context of Precision Medicine

Published on: April 22, 2022

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Published on: July 4, 2018

相关概念视频

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

Cystic Fibrosis: Management

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...