相关实验视频

Updated: Jan 9, 2026

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Published on: February 11, 2017

从囊性纤维化患者身上获得的鼻腔器官中CFTR调节器反应

Stefania Lo Cicero¹, Germana Castelli¹, Aurora Ceci¹

¹Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.

|December 10, 2025

概括

鼻腔器官模型有效地预测囊性纤维化转膜导电调节器 (CFTR) 调节器对罕见变异的反应. 这种治疗类型的方法确定了对非响应基因型的新治疗可能性.

科学领域:

生物医学研究生物医学研究
遗传学遗传学是一个
药理学药理学是指药理学的学科.

背景情况:

大多数罕见的CFTR变异不能用于当前的CFTR调节器.
类型测试,或体外基因型测试,是FDA接受的扩大调节器的资格.
对于对现有疗法无反应的CFTR变异,需要创新策略.

研究的目的:

评估鼻腔有机体作为CFTR调节器响应的类型模型.
评估elexacaftor/tezacaftor/ivacaftor (ETI) 和ivacaftor对罕见的CFTR变异的疗效.
为了识别以前未经表征的CFTR变异对调节器有反应.

主要方法:

利用来自囊性纤维化 (pwCF) 患者的鼻腔器官进行类型化.
优化了福斯科林诱导的胀 (FIS) 试验,以测量CFTR功能.
使用ETI和ivacaftor进行了38种罕见CFTR基因型的测试,将体外反应与FDA批准状态进行比较.

主要成果:

鼻腔器官精确地模仿了患者的上皮组织,CFTR活性和调节器反应.
在体外调节器响应和CFTR变异的FDA批准状态之间观察到强烈的相关性.
几种不具特征的CFTR变异对临床调节器表现出反应性.

结论:

鼻子器官FIS测定是一种强大的工具,用于预测CFTR调节器在个人pwCF中的有效性.
这种方法可以指导非标签处方,并为罕见的CFTR变异确定新的治疗点.
基于器官的治疗类型为个性化CF治疗和改善患者生活质量的重大潜力.

关键词:

CFTR病原性变体的病原性变体气道有机物质气道有机物质气道干细胞气道干细胞囊性纤维化症是什么疾病建模疾病建模有针对性的治疗.

更多相关视频

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

Culture and Imaging of Human Nasal Epithelial Organoids

Culture and Imaging of Human Nasal Epithelial Organoids

Published on: December 17, 2021

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...