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Cystic Fibrosis Mechanism and Treatment

By HHMI BioInteractive

This animation shows how mutations in an ion channel protein lead to the genetic disease cystic fibrosis. The animation also discusses how research on this protein has been used to develop treatments for the disease.

Listed in Teaching Materials | resource by group HHMI BioInteractive

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Version 1.0 - published on 01 Jul 2019 doi:10.25334/3RFD-6T62 - cite this

Licensed under CC Attribution-NonCommercial-NoDerivatives 4.0 International according to these terms

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Description

Cystic fibrosis is an autosomal recessive disease caused by mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR is an ion channel protein that transports chloride ions across the membranes of cells that line airways, glands, and the digestive tract. This animation illustrates how cystic fibrosis mutations can prevent CFTR from functioning properly, leading to the production of a thick mucus that obstructs airways and promotes infections. After screening hundreds of thousands of small molecules, scientists have identified a drug that can improve CFTR function and treat the disease in some patients.

Depending on students’ background, it may be helpful to pause the animation at various points to discuss different structures or molecules.

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