CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator. It is a gene that encodes a protein responsible for regulating the movement of chloride ions across the cell membrane. Mutations in the CFTR gene can lead to the development of cystic fibrosis (CF), a genetic disorder affecting the lungs, pancreas, liver, and intestines.
The CFTR protein acts as a channel in various tissues and organs, including the lining of the lungs and the cells that produce digestive enzymes in the pancreas. This protein controls the transport of chloride ions in and out of cells, which helps to regulate the balance of salt and water.
In individuals with cystic fibrosis, the CFTR gene carries mutations that result in a defective or non-functional CFTR protein. This disrupts the normal flow of salt and water across cell membranes, causing the production of thick and sticky mucus. This mucus buildup affects the lungs, leading to frequent respiratory infections and breathing difficulties. It also affects the pancreas, preventing the release of digestive enzymes necessary for proper food digestion.
Various treatments have been developed to address CFTR gene mutations, including medications that aim to correct the function of the faulty protein. These treatments, such as CFTR modulators, help improve lung function, reduce mucus buildup, and enhance overall quality of life for individuals with cystic fibrosis.
