Cystic Fibrosis and CFTR Mutations _ Genome Disfunction Review

Cystic Fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. It leads to abnormal chloride transport across epithelial cells, resulting in thick mucus secretions that primarily affect the respiratory and digestive systems. This article examines the genetic basis of CF, explores its systemic clinical features, and reviews therapeutic advancements, including CFTR modulators and gene therapies, which are transforming patient outcomes.