A team of researchers, led by physicians and scientists at Intermountain Healthcare's Intermountain Medical Center and ARUP Laboratories, has made a medical breakthrough by discovering genetic mutations that cause a rare and deadly lung disease.

The disease, pulmonary capillary hemangiomatosis or PCH, is a rare cause of pulmonary hypertension, which occurs predominantly in young adults. PCH affects less than one in a million people, and has been extremely difficult and expensive to diagnose, as well as challenging to treat.

This genetic discovery offers new hope.

"This is a significant finding. This discovery should advance our understanding of this rare pulmonary vascular disorder and other related disorders," said Greg Elliott, MD, MACP, senior investigator of the study and medical director of the Pulmonary Hypertension Center at Intermountain Medical Center in Murray, Utah, and professor of medicine at the University of Utah School of Medicine.

Results of the study will be published in the February issue of the journal Chest, the official publication of the American College of Chest Physicians.

Dr. Elliott and his team at Intermountain Medical Center and the University of Utah School of Medicine collaborated with researchers from Columbia University, Vanderbilt University and Mayo Clinic-Scottsdale.

To find the genetic mutation, the research team used a relatively new technology whole exome sequencing performed at ARUP Laboratories in Salt Lake City to test DNA samples. They discovered the genetic mutations in Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4. EIF2AK4 is a protein responsible for down-regulating protein synthesis when cells are exposed to stress.

Researchers found that in patients with the genetic mutations, their bodies don't properly regulate blood vessels in the lung. As a result, the capillaries in the lungs proliferate and the patient develops pulmonary hypertension.

D. Hunter Best, PhD, and Kelli L. Sumner, BS, two scientists on the research team, conducted the exome sequencing and analyzed the data in collaboration with colleagues at Columbia University and Vanderbilt University.

"Whole exome sequencing is breakthrough technology that allows us to test accurately and cost effectively for rare genetic disorders," said Dr. Elliott. "Without Dr. Best's expertise and the work done by Kelly Sumner in the laboratory, this discovery would not have occurred."

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Researchers discover genetic mutations that cause rare and ...

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