Study Yields Genetic Clue to Rare Lung Disease07/26/13
FRIDAY, July 26 (HealthDay News) -- A new genetic cause of a
rare and fatal lung disease has been identified by U.S.
The Columbia University Medical Center team found that mutations
on the gene KCNK3 are linked to pulmonary arterial hypertension,
which is high blood pressure in the lungs.
The mutations in the gene appear to affect potassium channels in
the pulmonary artery, a mechanism not previously linked to
pulmonary arterial hypertension, according to the study published
online July 25 in the
New England Journal of Medicine.
The researchers also found that the effects of the mutations in
the KCNK3 gene could be reversed with a drug compound called a
"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," study co-senior author Dr. Wendy Chung, an associate professor of pediatrics and medicine, said in a Columbia news release.
"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," she explained.
The findings were made in cell cultures.
Chung noted that KCNK3 mutations are a rare cause of pulmonary
arterial hypertension, adding she didn't want to oversell the
findings. "Still, it's exciting that we've found a mechanism that
can lead to the disease that is a new, druggable target. It's also
possible that targeting KCNK3 may be beneficial for patients who
have pulmonary arterial hypertension independent of their KCNK3
genetic status," she said.
Pulmonary arterial hypertension is a progressive disease in
which high blood pressure in the pulmonary artery causes reduced
blood flow from the right side of the heart to the lungs. The heart
compensates by pumping harder, but this can weaken the heart muscle
over time and lead to right-sided heart failure.
About 1,000 new cases of pulmonary arterial hypertension are
diagnosed in the United States each year. There is no cure and few
effective treatments. Most patients with the disease die five to
seven years after diagnosis.
The U.S. National Heart, Lung, and Blood Institute has more
pulmonary arterial hypertension.
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