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用CFTR调节器进行个性化治疗:p.Ile148Asn变体的反应

Cláudia S Rodrigues¹, Violeta Railean¹, Sofia S Ramalho¹

¹BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.

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概括

罕见的p.Ile148Asn囊性纤维化变异部分损害CFTR蛋白功能和流量. 已批准的CFTR调节器显示出拯救这种变异的潜力,有利于具有罕见CFTR突变的个体.

科学领域:

分子生物学分子生物学
遗传学是一个遗传学.
药理学药理学是指药理学的学科.

背景情况:

囊性纤维化 (CF) 病理生理学与CFTR变异有关.
目前的CFTR调节器主要治疗像p.Phe508del.这样的常见变体.
罕见的CFTR变异常常缺乏适用于现有治疗的资格,尽管有潜在的药物救援.

研究的目的:

在葡萄牙 CF 患者中鉴定 p.Ile148Asn CFTR 变异.
评估p.Ile148Asn-CFTR.的处理,流量和功能.
评估p.Ile148Asn-CFTR对已批准的CFTR调节器的反应.

主要方法:

在CF患者的肠道器官 (IOs) 中进行 Forskolin 诱导的胀 (FIS) 试验.
产生表达p.Ile148Asn-CFTR的囊性纤维化支气管上皮层 (CFBE) 细胞系.
对p.Ile148Asn变种的单个分子缺陷研究.

主要成果:

该p.Ile148Asn变体通过部分损害CFTR血膜流量和功能而导致囊性纤维化.
p.Ile148Asn-CFTR在CFBE细胞和IO中通过批准的CFTR调节器证明了救援.
这些发现表明,这种罕见变异对患有这种罕见变异的人有潜在的临床益处.

结论:

测试CFTR调节器寻找药物标签上没有的罕见变体至关重要.
使用患者衍生IO的"治疗学"方法通过考虑个体遗传背景来补充基于细胞系的治疗类型.

关键词:

囊性纤维化症是什么 I148NN 在线阅读肠道有机物肠道有机物在P.Ile148Asn中个性化医疗是个性化的医疗.超级神奇主义者超级神奇这是一种类型化.

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