New Utah Research Reveals Genetic Mutation Causes PCH

Salt Lake City, Utah, UNITED STATES

SALT LAKE CITY, UTAH, Feb. 10, 2014 (GLOBE NEWSWIRE) -- Breakthrough research conducted by Dr. Hunter Best, one of ARUP's medical directors and Dr. Greg Elliott from Intermountain Medical Center and the University of Utah, which focuses on genetic mutations that cause pulmonary capillary hemangiomatosis (PCH), a rare but deadly lung disease, was featured in this month's issue of CHEST magazine.

Dr. Best collaborated with a unique research team with scientists and physicians from Intermountain Medical Center, University of Utah School of Medicine, Columbia University, Vanderbilt University, and Mayo Clinic—Scottsdale. The discovery of the genetic mutations is a medical breakthrough and offers new hope in understanding a disease that has long been extremely difficult to treat and diagnose.

"This is very exciting. The identification of EIF2AK4 as a genetic component of this disorder will allow for noninvasive genetic testing to confirm a diagnosis of PCH in affected individuals," said Hunter Best, medical director of molecular genetics and genomics at ARUP Laboratories in Salt Lake City, Utah.

"Additionally, the discovery of EIF2AK4 gene mutations in PCH will help advance our understanding of the molecular pathogenesis of this disorder. I am honored to have been a part of this study."

The research team used a new technology, whole-exome sequencing, which is ideal for screening specific inherited genetic disorders for the underlying genetic cause. Previous methods of diagnosis were not only expensive but posed patient risk. Some patients underwent a lung biopsy, which risky to perform in patients with pulmonary hypertension. This discovery should assist in earlier detection and aid in a more rapid return of results and proper diagnoses.

"Dr. David Langleben, professor of medicine at McGill University, described this as a landmark study in the field of pulmonary hypertension, and I agree. The discovery that mutations in EIF2AK4 cause pulmonary capillary hemangiomatosis was a real team effort," said Greg Elliott, MD, MACP, senior investigator of the study , medical director of the Pulmonary Hypertension Center at Intermountain Medical Center in Murray, Utah, and a professor of medicine at the University of Utah School of Medicine. "The work that was done by Dr. Best, his team at ARUP, and our collaborators at the Mayo Clinic in Scottsdale led to this discovery, and collaboration from colleagues at Columbia University and Vanderbilt University provided additional evidence to confirm our findings."

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About ARUP Laboratories

Founded in 1984, ARUP Laboratories is a leading national reference laboratory and a nonprofit enterprise of the University of Utah and its Department of Pathology. ARUP offers more than 3,000 tests and test combinations, ranging from routine screening tests to esoteric molecular and genetic assays. ARUP serves clients across the United States, including many of the nation's top university teaching hospitals and children's hospitals, as well as multihospital groups, major commercial laboratories, group purchasing organizations, military and other government facilities, and major clinics. In addition, ARUP is a worldwide leader in innovative laboratory research and development, led by the efforts of the ARUP Institute for Clinical and Experimental Pathology®.

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