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Understanding CFTR Functionality: A Comprehensive Review of Tests and Modulator Therapy in Cystic Fibrosis

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Abstract

Cystic fibrosis is a genetic disorder inherited in an autosomal recessive manner. It is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene on chromosome 7, which leads to abnormal regulation of chloride and bicarbonate ions in cells that line organs like the lungs and pancreas. The CFTR protein plays a crucial role in regulating chloride ion flow, and its absence or malfunction causes the production of thick mucus that affects several organs. There are more than 2000 identified mutations that are classified into seven categories based on their dysfunction mechanisms. In this article, we have conducted a thorough examination and consolidation of the diverse array of tests essential for the quantification of CFTR functionality. Furthermore, we have engaged in a comprehensive discourse regarding the recent advancements in CFTR modulator therapy, a pivotal approach utilized for the management of cystic fibrosis, alongside its concomitant relevance in evaluating CFTR functionality.

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  1. School of Pharmaceutical Sciences, Lovely Professional University, Phagwara, Panjab, India

    Shorya Thakur,  Ankita, Shubham Dash, Rupali Verma, Charanjit Kaur, Rajesh Kumar & Gurvinder Singh

  2. Noida Institute of Engineering and Technology (Pharmacy Institute), Greater Noida, UP, India

    Avijit Mazumder

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Ankita: Collection of data, S.D.: collection of data. R.V.: collection of data. C.K.: Proofreading, R.K.: Proofreading. A.M.: Data interpretation, G.S.: Concept design, and compilation red. S.T.: manuscript idea and writing.

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Thakur, S., Ankita, Dash, S. et al. Understanding CFTR Functionality: A Comprehensive Review of Tests and Modulator Therapy in Cystic Fibrosis. Cell Biochem Biophys 82, 15–34 (2024). https://doi.org/10.1007/s12013-023-01200-w

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