Rockefeller University scientists have created the first three-dimensional map of the protein responsible for cystic fibrosis, an inherited disease for which there is no cure. This achievement, described in the December 1, 2016 issue of Cell, offers the kinds of insights essential to better understanding and treating this incurable disease, which clogs the lungs with sticky mucus, leading to breathing problems or respiratory infections. The Cell article is titled “Atomic Structure of the Cystic Fibrosis Transmembrane Conductance Regulator.” “With the three-dimensional structure, which we have resolved down to the level of atoms, we can say more about how the cystic fibrosis protein works normally and visualize how it becomes altered in patients,” says senior author Jue Chen, Ph.D., William E. Ford Professor and Head of the Laboratory of Membrane Biology and Biophysics at Rockefeller. Dr. Chen and first author Dr. Zhe Zhang, a postdoc in her lab, plotted out the locations of disease-causing mutations within the structure and revealed a vulnerable spot in the protein that appears responsible for many cases of the disease. “By examining what goes wrong here and at other sites, we hope it may become possible to devise treatments that correct these errors,” Dr. Zhang says. The protein in question, the cystic fibrosis transmembrane conductance regulator (CFTR), forms a channel on the surfaces of cells that allows particles of chloride, a component of salt, to pass through the cell membrane. Because the distribution of salt affects the movement of water, a disruption to the channel dehydrates the mucus lining certain organs—including the lungs, where the accumulation of thick mucus can allow bacteria to flourish and potentially lead to life-threatening complications.
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