27 Jul Pulmonary Arterial Hypertension : New Potassium Channel as Genetic Cause
Wendy Chung, MD PhD
Herbert Irving Associate Professor of Pediatrics and Medicine
Director of Clinical Genetics
1150 St. Nicholas Avenue, Room 620
New York, NY 10032
MedicalResearch.com: What are the main findings of the study?
Dr. Chung: We have identified a potassium channel as a new genetic cause of pulmonary hypertension and demonstrated it as a cause of pulmonary hypertension in patients with familial disease and sporadic disease without a family history of pulmonary hypertension. In vitro we were able to rescue several of the mutations pharmacologically. This potassium channel now provides a new target for treatment for pulmonary hypertension.
MedicalResearch.com: Were any of the findings unexpected?
Dr. Chung: It was unexpected that a potassium channel would cause pulmonary hypertension since channels had not previously been associated with this disease.
MedicalResearch.com: What should clinicians and patients take away from your report?
Dr. Chung: This potassium channel may provide a new target for treatment of pulmonary hypertension both in patients with mutations in this gene and more broadly in other patients with pulmonary hypertension without mutations in this gene.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Dr. Chung: We will be exploring ways to pharmacologically manipulate this channel to cause pulmonary artery vasodilation.
A novel channelopathy in pulmonary arterial hypertension.
Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Trégouët DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK.
Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
N Engl J Med. 2013 Jul 25;369(4):351-61. doi: 10.1056/NEJMoa1211097.