New genetic cause of pulmonary hypertension identified

New genetic cause of pulmonary hypertension identified

Scientists have identified new genetic mutations that can cause pulmonary arterial hypertension (PAH), a rare fatal disease characterized by high blood pressure in the lungs. The mutations, found in the gene KCNK3, appear to affect potassium channels in the pulmonary artery, a mechanism not previously linked to the condition. Cell culture studies showed that the mutations’ effects could be reversed with a drug compound known as a phospholipase inhibitor.

via ScienceDaily: Top Health News:

July 24, 2013 — Columbia University Medical Center (CUMC) scientists have identified new genetic mutations that can cause pulmonary arterial hypertension (PAH), a rare fatal disease characterized by high blood pressure in the lungs. The mutations, found in the gene KCNK3, appear to affect potassium channels in the pulmonary artery, a mechanism not previously linked to the condition. Cell culture studies showed that the mutations’ effects could be reversed with a drug compound known as a phospholipase inhibitor.The study was published today in the online edition of the New England Journal of Medicine.”The most exciting thing about our study is not that we’ve identified a new gene involved in pulmonary hypertension, but that we’ve found a drug that can ‘rescue’ some mutations,” said co-senior author Wendy K. Chung, MD, PhD, associate professor of pediatrics and medicine at CUMC. “In genetics, it’s common to identify a gene that is the source of a disease. However, it’s relatively rare to find potential treatments for genetic diseases.”PAH is a progressive disorder characterized by abnormally high blood pressure in the pulmonary artery, which reduces blood flow from the right side of the heart to the lungs. The heart can compensate by pumping harder, but over time this can weaken the heart muscle and lead to right-sided heart failure. Common symptoms of PAH include shortness of breath, dizziness, and fainting. About 1,000 new cases are diagnosed in the United States each year. The disorder is twice as common in females as in males. …

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ScienceDaily: Top Health News

New genetic cause of pulmonary hypertension identified

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