Based on the information in the table, which of the following best
describes the mutation in the CFTR gene?

The CFTR gene mutation is primarily associated with cystic fibrosis, a condition that affects the respiratory, digestive, and reproductive systems. This mutation can lead to the production of a malfunctioning cystic fibrosis transmembrane conductance regulator protein, which disrupts the transport of chloride and bicarbonate ions across epithelial cell membranes. As a result, thick, sticky mucus builds up in various organs, causing significant health issues.

Understanding the CFTR gene mutation isn’t just a matter of molecular biology—it’s about real lives. This mutation has led to unprecedented advances in medical therapies, including CFTR modulators that target the underlying genetic cause, improving the quality of life and longevity for many affected individuals. As researchers continue to innovate, the potential for gene therapy approaches looks promising, bringing hope for future breakthroughs.