Cystic Fibrosis: Understanding Cystic Fibrosis Transmembrane Regulator Mutation Classification and Modulator Therapies

Highlights What are the main findings? The study identifies and categorizes the six main classes of CFTR mutations based on their functional effects. The study explores the emerging field of CFTR modulators, which are designed to restore CFTR function or mitigate its consequences. These modulators are characterized by their mode of action and the specific mutation class they target. What is the implication of the main finding? By understanding the broad range of CFTR mutations and their impacts on disease pathophysiology, it is possible to establish tailored treatment strategies for CF patients. The study highlights the potential for precision medicine methods in CF therapy.Highlights What are the main findings? The study identifies and categorizes the six main classes of CFTR mutations based on their functional effects. The study explores the emerging field of CFTR modulators, which are designed to restore CFTR function or mitigate its consequences. These modulators are characterized by their mode of action and the specific mutation class they target. What is the implication of the main finding? By understanding the broad range of CFTR mutations and their impacts on disease pathophysiology, it is possible to establish tailored treatment strategies for CF patients. The study highlights the potential for precision medicine methods in CF therapy.Abstract A common life-threatening hereditary disease, Cystic Fibrosis (CF), affects primarily Caucasian infants. High sweat-salt levels are observed as a result of a single autosomal mutation in chromosome 7 that affects the critical function of the cystic fibrosis transmembrane regulator (CFTR). For establishing tailored treatment strategies, it is important to understand the broad range of CFTR mutations and their impacts on disease pathophysiology. This study thoroughly investigates the six main classes of classification of CFTR mutations based on their functional effects. Each class is distinguished by distinct molecular flaws, such as poor protein synthesis, misfolding, gating defects, conduction defects, and decreased CFTR expression at the apical membrane. Furthermore, this paper focuses on the emerging field of CFTR modulators, which intend to restore CFTR function or mitigate its consequences. These modulators, which are characterized by the mode of action and targeted mutation class, have the potential to provide personalized therapy regimens in CF patients. This review provides valuable insights into the genetic basis of CF pathology, and highlights the potential for precision medicine methods in CF therapy by thoroughly investigating CFTR mutation classification and related modulators.