Every day, Partners HealthCare researchers, engineers, and other talented scientists investigate hypotheses and medical innovations that hold the potential to change patient care and disease treatment. A newly discovered cell in the human airway, discovered by researchers from Massachusetts General Hospital (MGH) and colleagues, may hold new clues—and hope—for the 70,000 people with cystic fibrosis around the world.

For decades, researchers have studied the CFTR gene, which, when mutated, provides instructions for making a protein called the cystic fibrosis transmembrane regulator. That protein, in turn, causes the multiorgan dysfunction that characterizes cystic fibrosis—a disease for which there remains no cure. In two separate studies, the research teams revealed that CFTR activity is concentrated in a small, previously unknown population of cells they named “pulmonary ionocytes.” These cells may now serve as a target for future therapies as scientists inch closer to solving the puzzle at the core of the condition.

“Cystic fibrosis is an amazingly well-studied disease, and we’re still discovering completely new biology that may alter the way we approach it,” says Jayaraj Rajagopal, MD, co-corresponding author of one study and professor of medicine at MGH. “We have the framework now for a new cellular narrative of lung disease.”

The new studies suggest that the majority of CFTR expression occurs in these newly identified pulmonary ionocytes—which comprise only about one percent of airway cells—rather than the more ciliated cells previously suspected.

The research is an example of the kind of single-cell sequencing that is leading investigators to new understanding of biology at the cellular level—mapping new cell types in hopes of homing in on the mechanisms behind elusive conditions.

“We’ve uncovered a whole distribution of cell types that seem to be functionally relevant,” says Dr. Rajagopal. “What’s more, genes associated with complex lung diseases can now be linked to specific cells that we’ve characterized. The data are starting to change the way we think about lung diseases such as cystic fibrosis and asthma.”

Read more about the research in The Harvard Gazette.

Image above: Pulmonary ionocytes (orange) extend through neighboring epithelial cells in the upper respiratory tract of the mouse, to the surface of the epithelial lining. Cell nuclei are in cyan. Credit: Montoro et al./Nature 2018 via The Harvard Gazette.

Topics: Innovation, Academic Medical Centers

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