Researchers from UT Southwestern Medical Center have identified a genetic mutation that might be linked to an inherited form of deadly lung disease affecting older adults.
This is the third gene that the scientists believe is linked to idiopathic pulmonary fibrosis, or IPF that causes severe scarring of the lungs. It usually affects people in their 50s.
"We don't have any medicines to treat this disease," said Dr. Christine Garcia, assistant professor in the Eugene McDermott Center for Human Growth and Development and of internal medicine at UT Southwestern and the study's senior author.
"If a patient is younger than 65, lung transplantation is an option, but most people who develop IPF are older than that."
"We've been trying to identify the genes and genetic variants that underlie this disease. Now, we know there are multiple genes involved," she added.
During the study, the researchers identified mutations in a gene called SFTPA2. The protein produced by this gene, surfactant protein A2, is found in the fluid of the lungs and helps protect the organ from invading pathogens.
People with this mutation had not only IPF but also lung cancer, especially adenocarcinoma, with features of bronchioloalveolar cell carcinoma.
It is known that people with IPF have a higher risk for developing lung cancer. Garcia suspects that mutations in the SFTPA2 gene are associated with both IPF and lung cancer.
The study appears online in the January issue of American Journal of Human Genetics.