Cystic fibrosis, one of the most common chronic lung and digestive system diseases in children and adults, is caused by a defective gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation is the deletion of the phenylalanine amino acid residue at position 508 that leads to a defect in the protein transport to the cell surface, resulting in premature digestion of the protein.
A Wayne State University research team led by Fei Sun, Ph.D., assistant professor of physiology in the School of Medicine, recently received a grant with an anticipated amount of nearly $1.9 million from the National Heart, Lung and Blood Institute of the National Institutes of Health to better understand how this defective protein in cystic fibrosis patients is prematurely digested.
"We aim to develop a roadmap for identifying novel therapeutic targets to restore function to this mutation, ultimately alleviating much pain and suffering for many who suffer severe lung and bowel problems because of cystic fibrosis," said Sun.
Nearly 30,000 Americans have cystic fibrosis and another 10 million are carriers of the defective gene, which causes the body to produce a thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections, and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. There is no cure for the disease.
"Dr. Sun's research shows great promise in targeting the cystic fibrosis gene that attacks the digestive system," said Hilary Ratner, WSU's vice president for research. "If successful, it may lead to the development of new treatments that ultimately may change this from a life-threatening disease to one that is manageable or even eliminated someday. His research is a great example of the high impact research Wayne State University faculty are engaged in."