Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis

血液单核细胞中可检测到 CFTR 表达和功能缺陷:开发一种新的囊性纤维化血液检测方法

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作者:Claudio Sorio, Mario Buffelli, Chiara Angiari, Michele Ettorre, Jan Johansson, Marzia Vezzalini, Laura Viviani, Mario Ricciardi, Genny Verzè, Baroukh Maurice Assael, Paola Melotti

Background

Evaluation of cystic fibrosis transmembrane conductance regulator (CFTR) functional activity to assess new therapies and define diagnosis of cystic fibrosis (CF) is cumbersome. It is known that leukocytes express detectable levels of CFTR but the molecule has not been characterized in these cells. In this study we

Significance

CFTR is detectable and is functional in human monocytes. We also showed that CFTR-associated activity can be evaluated in 5 ml of peripheral blood and devise an index potentially applicable for diagnostic purposes and both basic and translational research: from drug development to evaluation of functional outcomes in clinical trials.

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