Mutant Cystic Fibrosis Gene Linked to Chronic Sinusitis

[Guest guest]

Mutant Cystic Fibrosis Gene Linked to Chronic Sinusitis

BYLINE: By JAMIE TALAN; Newsday

BODY: After devoting decades to studying the mysteries of cystic

fibrosis, scientists at s Hopkins have discovered that some of the

same genetic mutations that trigger the disease can play a role in

chronic sinus infections in the general population.

Dr. Garry Cutting, a professor of pediatrics and medicine, and his

colleagues at the renowned medical center in Baltimore found that some

people with severe and repeated sinus infections carry one copy of the

mutated CF gene that causes the severe illness.

Two copies of this CF gene, one from each parent, is necessary for

cystic fibrosis to take hold. [There have been 16 mutations identified

on the CF gene. Some confer a milder version of the illness when two

copies are present.] While these people with one mutated gene [of the

severe form] don't have cystic fibrosis, the mutated gene seems to leave

its mark on the sinus passages.

" We've always wondered whether one copy of the mutant CF gene has any

health effects, " Cutting said.

Chronic sinus infections have always plagued CF patients. The normal

role of the gene is to shuttle salt and chloride through the body, and

when this system is damaged, the result is a buildup of thick mucous in

the lungs, pancreas, sweat glands and sinuses.

People with a mild form of CF may have some problems with mucous buildup

in the lungs, but the other organs are in working order. But these

patients have the same serious sinus infections as those with the severe

form of CF.

That's when Cutting got the idea that perhaps people with only one copy

of the CF gene also might be predisposed to sinus infection. They headed

to the Hopkins' sinus clinic to test their theory. They enrolled 148

chronic sinusitis sufferers and another 120 healthy age-matched

controls, none of whom had any history of CF disease.

Two of the 120 normal volunteers carried one copy of the mutated CF gene

compared with 11 of the 148 chronic sinusitis sufferers. One of the

patients actually had two copies of the gene that confers a mild form of

CF, even though it had never been diagnosed.

In addition, the scientists found that another CF gene, which comes in

several forms, was the same in nine of the 10 who carried one copy of

the mutated gene. The scientists then went back to ask whether the other

patients in the study were more likely to have that particular kind of

the normal gene. Indeed, 44 percent of the patients had two copies of

this variant compared with 28 percent of the volunteers.

While this intriguing finding must be replicated by other investigators,

eventually it could lead to treatments for many of the 30 million

Americans who suffer from chronic sinusitis.

" It gets us to rethink chronic sinus infections, " Cutting said. " If the

CF gene is an important player in chronic sinusitis, perhaps we can use

therapies designed to target the damaged protein, " called CFTR.

About 30,000 Americans have cystic fibrosis, yet one in 30 carries one

copy of the mutated gene. Perhaps the variant identified increases the

risk for chronic sinusitis. Cutting thinks this is the case.

Little is known about the common triggers for chronic sinus infections.

" Knowing which genes are involved tells us how to approach underlying

biology and may suggest smarter ways to deal with disease, " Cutting

said.

Becki

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[Guest guest]

This article really interests me. As I stated when I first joined the list,

there is no family history of CF. But after reading this, I guess there has

been clues all along. It is especially interesting because I am due to have

major sinus surgery on July 16. For as long as I can remember I have always had

sinus problems, I guess this explains why : )

Katy

Mom to Austin almost 4 w/o CF & Piper 11 months w/CF

MissGooberGirl@... wrote:

Mutant Cystic Fibrosis Gene Linked to Chronic Sinusitis

BYLINE: By JAMIE TALAN; Newsday

BODY: After devoting decades to studying the mysteries of cystic

fibrosis, scientists at s Hopkins have discovered that some of the

same genetic mutations that trigger the disease can play a role in

chronic sinus infections in the general population.

Dr. Garry Cutting, a professor of pediatrics and medicine, and his

colleagues at the renowned medical center in Baltimore found that some

people with severe and repeated sinus infections carry one copy of the

mutated CF gene that causes the severe illness.

Two copies of this CF gene, one from each parent, is necessary for

cystic fibrosis to take hold. [There have been 16 mutations identified

on the CF gene. Some confer a milder version of the illness when two

copies are present.] While these people with one mutated gene [of the

severe form] don't have cystic fibrosis, the mutated gene seems to leave

its mark on the sinus passages.

" We've always wondered whether one copy of the mutant CF gene has any

health effects, " Cutting said.

Chronic sinus infections have always plagued CF patients. The normal

role of the gene is to shuttle salt and chloride through the body, and

when this system is damaged, the result is a buildup of thick mucous in

the lungs, pancreas, sweat glands and sinuses.

People with a mild form of CF may have some problems with mucous buildup

in the lungs, but the other organs are in working order. But these

patients have the same serious sinus infections as those with the severe

form of CF.

That's when Cutting got the idea that perhaps people with only one copy

of the CF gene also might be predisposed to sinus infection. They headed

to the Hopkins' sinus clinic to test their theory. They enrolled 148

chronic sinusitis sufferers and another 120 healthy age-matched

controls, none of whom had any history of CF disease.

Two of the 120 normal volunteers carried one copy of the mutated CF gene

compared with 11 of the 148 chronic sinusitis sufferers. One of the

patients actually had two copies of the gene that confers a mild form of

CF, even though it had never been diagnosed.

In addition, the scientists found that another CF gene, which comes in

several forms, was the same in nine of the 10 who carried one copy of

the mutated gene. The scientists then went back to ask whether the other

patients in the study were more likely to have that particular kind of

the normal gene. Indeed, 44 percent of the patients had two copies of

this variant compared with 28 percent of the volunteers.

While this intriguing finding must be replicated by other investigators,

eventually it could lead to treatments for many of the 30 million

Americans who suffer from chronic sinusitis.

" It gets us to rethink chronic sinus infections, " Cutting said. " If the

CF gene is an important player in chronic sinusitis, perhaps we can use

therapies designed to target the damaged protein, " called CFTR.

About 30,000 Americans have cystic fibrosis, yet one in 30 carries one

copy of the mutated gene. Perhaps the variant identified increases the

risk for chronic sinusitis. Cutting thinks this is the case.

Little is known about the common triggers for chronic sinus infections.

" Knowing which genes are involved tells us how to approach underlying

biology and may suggest smarter ways to deal with disease, " Cutting

said.

Becki

YOUR FAVORITE LilGooberGirl

YOUNGLUNG EMAIL SUPPORT LIST

www.topica.com/lists/younglung

Pediatric Interstitial Lung Disease Society

http://groups.yahoo.com/group/InterstitialLung_Kids/