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Fixing the Faulty Protein in CF, CFTR

Coverage from the North American CF Conference

October 30, 2009

Since the CF gene was discovered 20 years ago, scientists have been focused on finding a way to fix the underlying genetic cause of cystic fibrosis. Exploring ways to do this was a key topic throughout the 23rd annual North American CF Conference.

The abnormal CF gene causes a protein known as CFTR to be faulty. When CFTR does not function properly, it causes mucus to build up in the lungs and other organs of the body.

“CFTR is a small passageway, like a door, that lines the lungs,” explained Eric Sorscher, M.D., director of the CF Research Center at the University of Alabama at Birmingham. When the door isn’t made properly or it is broken, salt and water don’t move normally in the lungs. This leads to thick mucus coating the lungs.

Scientists are learning more every day about the different ways CFTR malfunctions. If researchers can devise drugs that will allow faulty CFTR to be made properly and do its job within the cell, people with CF could live a much healthier life, said Sorscher.

Hear more from Dr. Eric Sorscher

CFTR is important in a number of organs in the body. When it is not functioning normally or is absent, disease begins in those organs.

A better understanding of the disease process in CF is allowing researchers to develop new and improved treatments for the disease, explained Steven Rowe, M.D., assistant professor in the Department of Medicine at the University of Alabama at Birmingham.

There are five classes of mutations of CFTR that cause cystic fibrosis. Delta F508, the most common mutation in CF, is known as a Class II mutation. Researchers believe the severity of CF depends on which class of mutation a person has.

“While we don’t understand this entirely, we do know that patients who have some functioning CFTR at the cell surface have a milder disease,” said Rowe.

A treatment that restores CFTR function would make a tremendous difference in the lives of CF patients. One of the most exciting things going on in the field of CF today, said Rowe, are the treatments in the form a pill that could address the genetic defect in CF.

A treatment that would address the basic defect in CF would improve more than just the lung. “Patients with CF who suffer from other problems could be aided by these drugs, too,” explained Rowe.

Hear more from Dr. Steven Rowe