SNU has found a new gene that plays a pivotal role in the secretion of water and electrolytes through epithelial cells of humans ― seen as a breakthrough in treating a currently incurable disease.

In an article published Sunday on the Web site of Nature, a renowned British-based science journal, Prof. Oh Uh-taek of the College of Pharmacy announced that his research team had found the gene, anoctamin 1, which contains information on the ionic passage of chlorides.

Oh's team found the specific gene by analyzing a human genome base from the U.S. National Institute of Health.

The discovery means men are likely to have a higher chance of finding a cure for cystic fibrosis (CF), a hereditary disease affecting the lungs, liver, pancreas, and intestines, and causing progressive disability due to multisystem failure. The disease causes a dysfunction of the chloride ion channel, Oh said.

There is no known cure for CF and most sufferers die young, mostly in their 20s and 30s from lung failure, in spite of recent improvements in treatment.

It is one of the most common lethal diseases in the Western world. In the United States, one in 3,900 children are born with CF. Also, one in 22 men of European descent carries the gene for the disease.

Chloride-ionic channels control the discharge of water in the human body by pushing ions out through epithelial cells, tissues forming most glands. A high density of chloride ions in the cells causes anoctamin 1 to pass the ions through raised osmotic pressure and thus eliminating water.

Major secretion activities such as those for saliva, tears and sweat, as well as those in the bronchus and pancreas, also occur using this mechanism.

CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator which controls the chloride-ionic channels.

Failure in the gene leads to development of the fatal disease. In the bronchus, for example, poor secretions lead to drying haqmpering breathing.

"Increased activation of anoctamin 1 raises both secretions of chloride ions and water, so it can contribute to the creation of an innovative cure for the disease," the professor said.

August 25, 2008
PR Office