ANALYSIS OF THE MOLECULAR MECHANISMS OF CYSTIC FIBROSIS: IMPACTS OF THE CFTR GENE MUTATION ON PATHOGENESIS AND POTENTIAL INNOVATIVE THERAPIES

Abstract

Cystic fibrosis (CF) is an autosomal recessive genetic disease that primarily affects the lungs and pancreas, leading to severe respiratory and digestive complications. The cause of the disease is linked to mutations in the CFTR gene, which encodes a protein responsible for regulating chloride ion transport in epithelial cells. When this protein is dysfunctional, an ionic and fluid imbalance occurs on mucosal surfaces, resulting in the accumulation of thick secretions—a hallmark of the disease. Recent studies have sought innovative therapeutic alternatives to correct the molecular defects of CFTR. Among these approaches, modulators that restore protein function and gene therapy aimed at correcting the DNA mutation stand out. A detailed understanding of the molecular mechanisms involved in CF is essential for the development of new therapeutic strategies that can alter the course of the disease. The methodology of this study was structured based on three main steps: source selection, critical content analysis, and synthesis of information to address the proposed objectives. This approach enabled the collection and interpretation of the most relevant data on CFTR gene mutations and emerging therapeutic alternatives, contributing to a comprehensive and up-to-date view of cystic fibrosis.