The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is a protein that plays a crucial role in maintaining the balance of ions, particularly chloride ions, in cells lining the airways, digestive system, sweat glands, and reproductive system. It is encoded by the CFTR gene found on chromosome 7.
The CFTR protein functions as a gated channel located in the cell membrane, allowing the controlled flow of ions across the cellular barrier. Its primary job is to transport chloride ions out of cells, thereby regulating the movement of water and salt in and out of the cells. This process is vital for maintaining normal secretions, such as mucus, in various organs.
Mutations in the CFTR gene lead to the development of cystic fibrosis (CF), a genetic disorder characterized by the production of thick, sticky mucus that clogs the airways, digestive tract, and other organs. CFTR mutations can disrupt the proper function of the CFTR protein, resulting in reduced chloride transport and impaired fluid balance in the affected organs.
Suboptimal CFTR protein activity can lead to the accumulation of thick mucus in the airways, impairing lung function and increasing the risk of respiratory infections. In the digestive system, faulty CFTR protein can hinder the normal transport of digestive enzymes, leading to malabsorption of nutrients. Sweat glands can also be affected, resulting in excessively salty sweat.
The understanding of CFTR and its role in the pathogenesis of cystic fibrosis has provided valuable insights into the development of targeted therapies aimed at restoring CFTR function or improving its activity. These therapies, known as CFTR modulators, have significantly improved the outlook for individuals with CF, offering the potential to address the underlying cause of the disease rather than just managing its symptoms
