Re: Great Article ...

[Guest guest]

Hi,

since I saw no reply to Rosemary's post, I want to point out why it

is a great article. For many years now CF-researchers are exploring

methods, how they can make cells of PWCF to produce functioning CFTR

again.

And for those patients with stop mutations (that's all the mutations

ending with an X) they've come one (big?) step closer to a solution.

Gentamicin, a drug that is commonly used as an antibiotic, is able to

restore the function of the CFTR in stop mutations.

I've copied an article below about one young woman, who took part in

the study.

Peace

Torsten

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 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.

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.

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.

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HEALTHY FOR LIFE EXTRA

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

Eubanks

Research Coordinator

University of Alabama at Birmingham

620 ACC

16000 7th Avenue South

Birmingham, AL 35233

vaeubanks@...