Two NHLBI studies confirm finding of gene in primary pulmonary hypertension

Two separate groups of scientists funded by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health have simultaneously identified a genetic mutation associated with primary pulmonary hypertension (PPH), a rare but devastating lung disease.

The two groups, the International PPH Consortium (investigators from Vanderbilt University, Nashville; Children's Hospital Medical Center, Cincinnati; Indiana University School of Medicine, Indianapolis; and the University of Leicester, UK.) and Columbia University investigators, independently reported that defects in the BMPR2 gene, which regulates growth and development of the lung, are associated with PPH. The defects in the gene lead to the abnormal proliferation of cells in the lung characteristic of PPH.

Although both studies suggest that only one gene is involved in PPH, neither group identified the defects in BMPR2 as the sole cause of PPH. In addition, since many people without a known family history of PPH get the disease, both groups suggested that other factors may interfere with control of tissue growth.

One report was released today on the Web site of Nature Genetics, http://press.nature.com/index2.html. The other report was released on July 20th on the Web site of the American Journal of Human Genetics, http://www.ajhg.org.

Said NHLBI Director Dr. Claude Lenfant, "This research is the culmination of nearly 20 years of work to identify possible immunologic and genetic factors in the cause and progression of PPH. Now that we have pinpointed a gene, we can focus on learning how it works. That information should enable us to devise better treatments and perhaps eventually a preventive therapy or cure."

PPH is a rare lung disease characterized by uncontrolled proliferation of cells in the blood vessels in the lungs. This build-up of cells leads to blockag

Contact: NHLBI Communications Office
NIH/National Heart, Lung, and Blood Institute

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