CYSTIC FIBROSIS BREAKTHROUGH
Cystic fibrosis is a genetic disease that affects 30,000 children and adults in the us. In 1989, scientists discovered the gene responsible for CF. Now, new research finds a way to correct the defect. This research is a big step forward.
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18-year-old Amy Crews tries to live a normal life.
Amy Crews
"I don't want people to feel sorry for me. I don't want to be pitied."
Kerry Lambert
Amy's Stepfather
"We don't focus on the fact that she's got a disease. We focus on the life that she's living."
Amy was diagnosed with cystic fibrosis when she was two months old. She's had a number of surgeries including having one lung removed. Recently, she decided to be part of research.
Amy Crews
Has Cystic Fibrosis
"I hope that the research goes as they hope that it goes and that they can use this new medicine to help other people and help me."
Scientist David Bedwell says the research involves repairing a gene.
All genes start and stop creating a full length protein. In 10% of CF patients, there is a premature stop and the protein is not made properly.
David Bedwell, Ph.D.
Molecular Biologist
University of Alabama at Birmingham
Birmingham, AL
"What we're doing is we're tricking the machinery into bypassing that first stop, the premature stop, and reading all the way to the end so that you make a full-length, functional protein."
Research shows the antibiotic, gentimicin, can correct the problem.
David Bedwell, Ph.D.
"This is one of the first times we've actually altered the cellular machinery to do something we wanted it to do."
Amy's gene was changed while on the medication.
The downside, according to her pediatrician J.P. Clancy, is that Gentimicin has severe side effects, and can't be used long-term.
J.P. Clancy, M.D.
Amy's Pediatrician
"It isn't a permanent fix. It can only work for the period of time that the medication is used."
But researchers say this discovery is a step in the right direction.
The treatment can be repeated, but side effects of the drug may include kidney failure and hearing loss. Animal studies are underway to find a way to deliver this drug without causing the side effects. Tests on other similar drugs are also underway. Researchers say it will take time to see if the disease progression is slowed in patients.
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.
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
Copyright © 2003 Ivanhoe Broadcast News, Inc.
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