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Medical Breakthroughs: Cystic Fibrosis Breakthrough

BACKGROUND: Cystic Fibrosis is a genetic disease that affects approximately 30,000 children and adults in the United States. It is a chronic disease.

It causes the body to produce an abnormally thick, sticky mucus, due to the faulty transport of salt within the cells that line organs such as the lungs and pancreas, to their outer surfaces. The thick mucus obstructs the pancreas, preventing enzymes from reaching the intestines to help break down and digest food.

For many years, CF was considered a disease of children and teens because lung infections and respiratory complications often led to early death. Now, doctors say patients with CF are living into their 30s and 40s. In fact, more than 38 percent of the people with CF in the United States are now 18 years or older. Advances in care are increasing the survival age.

In 1989, scientists also discovered the gene defect that leads to CF. This was a huge step, say researchers, but genetic research has taken time because there are hundreds of different types of problems in the gene that can cause different types of CF.

NEW RESEARCH: In 10 percent of CF patients, there is a premature mutation that causes a stop in the formation of a protein. Scientists say a gene is like a sentence that begins with a capital letter and ends with a period. When the gene is properly formed, a full length, functional protein is formed. In patients with an x mutation, there is a premature stop in the middle of the sentence, and the protein is not properly formed.

Researchers from the University of Alabama at Birmingham say they have found a way to trick the gene into passing the premature stop and continuing to the end. They say the commonly used antibiotic gentamicin is effective at tricking the gene. Research done in the United States and in Israel shows patients who were on the drug had a change in their gene.

THE PROBLEM: While this discovery is very promising, the problem is that it is not permanent. Gentamicin is a toxic drug and can cause severe side effects if the patient is on it too long. The side effects can include kidney failure and hearing loss. Right now, a multi-center study is underway looking at other ways to administer this drug to patients to reduce the risk of these side effects.

Doctors are also testing other similar drugs to see if they will be as effective as gentamicin in correcting this problem in the gene. The hope is that, if a drug can correct the problem in the gene, the progression of the disease will be stopped in the patient. At this point, the drug has not been tested in anyone long enough to see if the progression of CF is stopped. However, it has been tested long enough to see the change in the gene.

FOR MORE INFORMATION, PLEASE CONTACT:

Valerie Eubanks
Research Coordinator
University of Alabama at Birmingham
620 ACC
16000 7th Avenue South
Birmingham, AL 35233
(205) 939-5743
vaeubanks@peds.uab.edu


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