Researchers have developed a molecular catalog of cells in healthy lungs and the lungs of people with cystic fibrosis, which could help develop new therapeutics in the future.
The catalog, described today in the journal Nature Medicine, reveals new subtypes of cells and illustrates how the disease changes the cellular makeup of the airways. The findings could help scientists in their search for specific cell types that represent prime targets for genetic and cell therapies for cystic fibrosis.
“This new research has provided us with valuable insights into the cellular makeup of both healthy and diseased airways,” said Dr. Brigitte Gomperts, a co-senior author of the study and a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA. “If you can understand how things work in a state of health, it becomes easier to see what cellular and molecular changes occur in a disease state.”
A progressive genetic disorder that affects more than 70,000 people worldwide, cystic fibrosis results from mutations to the CFTR gene. Cells that contain the defective protein encoded by the gene produce unusually thick and sticky mucus that builds up in the lungs and other organs. This mucus clogs the airways, trapping germs and bacteria that can cause life-threatening infections and irreversible lung damage.
While several new therapies can partially restore the function of these damaged proteins, easing symptoms of the disease, slowing its progression and improving quality of life, these treatments only work in people with some of the many CFTR mutations that can cause cystic fibrosis.