Patients suffering from cystic fibrosis will live only as long as their lungs allow.
Cystic fibrosis is an inherited chronic disease that affects about 30,000 children and adults in the United States. A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. As a result, a child born with the disease has a life expectancy of less than 38 years.
In new research, scientists from the Oklahoma Medical Research Foundation and a group of collaborating institutions have identified a gene that appears to play a key role in the long-term prognosis for patients suffering from cystic fibrosis.
That finding, said OMRF’s John Harley, M.D., Ph.D., could ultimately lead to a treatment to prolong the lives of some patients suffering the disease. Harley co-authored the new research study, which appears today in an advance online publication of the scientific journal Nature.
Most patients with cystic fibrosis have a gene mutation called Delta-F508. Some die very young from lung disease, said Harley, while others can live into middle age before serious lung disease appears.
“What we discovered is a genetic difference between those with early-onset lung problems and those who developed them later in life,” Harley said. “Of the 800 patients in the study, we found that many of those who developed lung disease early have a variant of a gene—IFRD1—that makes them more susceptible to a type of bacteria that tends to grow in the lungs of cystic fibrosis patients.”
Those patients, said Harley, are hit hardest by lung disease. By finding a new gene that controls the severity of lung disease, researchers hope to find a treatment to extend the lives of cystic fibrosis patients.
“It is fantastic and unexpected that the gene we identified has already been studied as a therapeutic target,” he said. “So there are already compounds being developed that can influence its actions.”
That doesn’t mean a treatment is already available or will be tomorrow, cautioned Harley. “But because there are already compounds in the drug development pipeline, the wait for a treatment could be shorter.”
“We’re proud to have played a part in this discovery, which holds promise in extending and enriching the lives of cystic fibrosis patients,” OMRF President Stephen Prescott, M.D. said. “The better we understand the genetic factors involved in cystic fibrosis, the more effectively we can fight this terrible disease.”
The research was funded by grants from the National Cystic Fibrosis Foundation, which has a chapter in Oklahoma City, and the National Heart, Lung and Blood Institute.
About Cystic Fibrosis
Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (and 70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:
- clogs the lungs and leads to life-threatening lung infections; and
- obstructs the pancreas and tops natural enzymes from helping the body break down and absorb food.
In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, many people with the disease can now expect to live into their 30s, 40s and beyond.
(Source: Cystic Fibrosis Foundation)
