There are many shared risk factors for the development of the lung diseases pulmonary fibrosis (PF) and chronic obstructive pulmonary disease (COPD), but researchers of the two chronic conditions usually focus on understanding each disease separately.
New research has found evidence that there may be a common genetic predisposition for the development of PF and COPD. The study was conducted at Yale University, where investigators believe that further research on the common genetic network is needed.
Smoking is the most common cause of COPD, but it can also contribute to PF. The effects of tobacco smoke on the lungs are very different in each disease. PF consists of excessive scarring of the lungs due to the organs’ consistent repair of continued damage. COPD occurs when there is insufficient repair and consequent damage to the lung tissue.
The two conditions also share high mortality and morbidity rates.
The research team analyzed patients’ samples of tissue from PF, COPD, and other diseases based on biorepository data from the Lung Tissue Resource Consortium. The investigators assessed the alterations in the genetic expression for both conditions, in comparison with non-diseased lungs using RNA sequencing and systems biology techniques. The research revealed that determined gene mutations were shared by both PF and COPD.
“We were able to identify a relatively large number of genes that behaved similarly in both diseases,” said the study’s lead, Dr. Naftali Kaminski, chief of Yale’s Pulmonary, Critical Care, and Sleep Medicine section, in a press release. “This finding may suggest that there are potential core mechanisms shared by IPF and emphysema, allowing for the development of interventions to target both diseases.”
The genetic network found to be related to both PF and COPD is called p53/hypoxia pathway. Investigators believe it may open doors for further understanding of lung diseases.
“This may suggest that the network underlies the response to the environmental causes of IPF and COPD,” said Dr. Avrum Spira, co-corresponding author and a key collaborator on the project. “It may also be relevant to lung cancer, a condition that is more common in patients with IPF or COPD.”
The conclusions were included in a study “Integrated Genomics Reveals Convergent Transcriptomic Networks Underlying COPD and IPF,” recently published in the American Journal of Respiratory and Critical Care Medicine. The Yale team worked in collaboration with colleagues from Boston University, University of Colorado-Denver, Harvard University, University of Pittsburgh, University of Michigan, and the Mayo Clinic.
The transcriptomic study is the first large-scale study of its kind that directly compares chronic lung diseases. However, researchers believe that further investigation is needed to understand the conclusions.
“The study of COPD, IPF, or even lung cancer has been siloed for too long,” Kaminski said. “We may learn a lot by comparing and contrasting these devastating conditions.”
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