A research team from the University of California, San Diego School of Medicine found defective signaling for a protein called the peroxisome proliferator-activated receptor-γ (PPAR-γ) accounts for a portion of disease symptoms in cystic fibrosis, and that correction of the defective pathway reduces symptoms of the disease in mice.
These finding could lead to new therapeutic targets for patients with the cystic fibrosis.
Cystic fibrosis is the most common, potentially lethal genetic disease among whites, occurring in one in 3,000 births. The disease is a multisystem condition that leads to progressive lung failure, pancreatic failure and gastrointestinal obstruction, or blockage.
"Cystic fibrosis results from a genetic mutation in a channel, or membrane pore, that facilitates the transport of chloride and bicarbonate electrolytes from inside the cell to the spaces outside the cell," lead investigator Dr. Gregory Harmon told ScienceDaily. "Loss of the cystic fibrosis pore channel results in inflammation and mucus accumulation. It also results in dehydration of the cell surfaces that make up the lining spaces inside the lungs and other affected organs, such as the intestinal tract."
The study was published in the Feb. 14 edition of the journal Nature Medicine.