Defects in Gene Associated With Rare Lung Disease

Two groups of scientists have simultaneously identified a genetic mutation associated with primary pulmonary hypertension, or PPH, a rare but devastating lung disease. PPH is characterized by uncontrolled proliferation of cells in blood vessels in the lungs. This causes blockages that force the heart to pump harder, increasing blood pressure in the pulmonary artery.

The two groups--one an international collaboration and one from Columbia University--independently reported that defects in the BMPR2 gene, which regulates growth and development of the lungs, lead to the abnormal proliferation of cells characteristic of PPH. The reports will appear in the August issues of Nature Genetics and the American Journal of Human Genetics.

--Compiled by Times medical writer Thomas H. Maugh II