Mutations in the CFTR gene, which encodes a transmembrane ion channel, cause mucus buildup in the airways of patients with cystic fibrosis.
This animation can be used to illustrate the connection between genotype and phenotype using a human disease example. It also demonstrates how knowledge about the genetic mutations responsible for a particular disease can be used to develop a treatment.
Cystic fibrosis is an autosomal recessive disease caused by any one of more than 2,000 mutations in a gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR). This protein functions as a channel that transports chloride ions across the membranes of cells that line airways, glands, and the digestive tract. This animation shows how some CFTR mutations prevent the channel from functioning properly, leading to the production of a thick mucus that can obstruct airways and provide a breeding ground for infections. The animation also illustrates the process by which scientists identified small molecule drugs that can improve CFTR channel function and treat the disease in some patients.
