Re: Re: FW: CF NEWS FROM AROUND THE WORLD/?

[Guest guest]

Neither of 's mutations end in x. Does this mean that this won't help

her? Or is it not the major thrust of the research?

CF NEWS FROM AROUND THE WORLD

>

>

> CF News From Around the World

> To subsribe go to www.esiason.org

> To unsubscribe follow the link at the end of this email

> ************************************

> Newsday (New York)

>

> October 28, 2003 Tuesday NASSAU AND SUFFOLK EDITION

>

> HEADLINE: Antibiotic May Control, Not Cure Cystic Fibrosis

>

> BYLINE: By Delthia Ricks. STAFF WRITER

>

> An old-line antibiotic used for years against common infections

may

> have the remarkable ability to correct a genetic flaw in cystic

> fibrosis, a finding that ultimately may lead to a new way of

treating

> the intractable genetic disease.

>

> Gentamicin, long a staple in the fight against bacteria, has the

> unusual ability to override a major genetic defect in cystic

fibrosis

> and tweak DNA transcription involved in the entrance and exit of

> chloride in cells.

>

> Just as a boss' memo must be transcribed for dispersal to

workers,

> something similar must occur in the transcription of messages from

DNA,

> the master text of life. Messages contained within DNA must be

read and

> then transcribed by the cellular stenographer, RNA, before a key

protein

> involved in proper chloride activity can be made.

>

> People with cystic fibrosis have specific DNA mutations,

garbling

> instructions for production of the protein that chaperones chloride

> through channels.

>

> A study by Israeli researchers has shown that gentamicin

corrects the

> nonsense, allowing chloride to be escorted effortlessly in and out

of

> cells.

>

> The new work promises a way of controlling the disease, but

probably

> not curing it, doctors say. Moreover, the drug likely will be

effective

> only against the type of mutation predominantly seen among people

of

> Ashkenazi Jewish descent. Yet developing gentamicin as a therapy

remains

> years away.

>

> " The bottom line here is not to think of gentamicin as an

> antibiotic, " said Dr. Durie, director of the Cystic Fibrosis

> Center at the Hospital for Sick Children in Toronto. " Its role in

this

> study has nothing to do with [treating] infection. "

>

> Durie, an expert on cystic fibrosis who was not associated with

the

> experiments, said the discovery opens a window on research,

> demonstrating that a well-known drug may have the power to

influence

> genes.

>

> " The idea behind this paper is that this concept can be used in

other

> genetic diseases, " he said.

>

> Poor chloride transport is a hallmark of cystic fibrosis. For

years,

> scientists have known that when chloride cannot pass freely

through cell

> membranes, the result can devastate physiologic function: the

lungs,

> digestion and, in males, fertility.

>

> People with cystic fibrosis have an array of symptoms, the most

> serious of which is a viscous mucus in the lungs. Additionally,

they are

> consumed by persistent infections, coughing, wheezing and

shortness of

> breath. Mucus accumulation can provide a breeding ground for

infections,

> which can be deadly.

>

> The gentamicin discovery comes amid a flurry of developments in

which

> old antibiotics are being found to play new tricks.

>

> Researchers last year at Stony Brook University found that an

altered

> form of tetracycline could prevent the cascade of molecular events

> leading to heart attacks. Dr. Lorne Golub of Stony Brook's dental

school

> began the studies more than two decades ago, stripping away

> tetracycline's " side chains " - chemicals that give the drug its

> antibacterial punch - and leaving behind a potent anti-inflammatory

> medication.

>

> Golub, who named the stripped-down version Periostat in the

1980s as

> a dental treatment, has found in recent studies that it helps

prevent

> blockage of blood vessels by plaque.

>

> The antibiotic minocycline is being tested against amyotrophic

> lateral sclerosis, Lou Gehrig's disease. And scientists recently

> announced that clioquinoline, an antibiotic lastused in the 1970s,

is

> being resurrected for tests in people with Alzheimer's disease.

>

> Testing gentamicin against cystic fibrosis, Durie said, is a

sharp

> departure from the gene therapy approach, which captured scientific

> imagination in the 1980s and is still being pursued, though so far

> without a cure. The process involves inserting a copy of " a good

gene "

> with correct chloride transport information into patients' cells.

>

> But if further study supports the gentamicin findings, the

answer to

> other, rarer DNA miscodes in cystic fibrosis already may be on

pharmacy

> shelves.

>

> The gentamicin discovery came from the work of Dr.

Wilchanski

> of Shaare Zedek Medical Center in Jerusalem, who studied 19

children

> with well-defined miscues in a gene dubbed CFTR. He reported in a

recent

> issue of The New England Journal of Medicine that administering the

> antibiotic as nose drops

> - two drops given three times daily for 14 days - corrected the

genetic

> flaw, but only in cells lining nasal tissue.

>

> Scientists did not administer enough medication to reach the

> children's lungs or to have an impact on symptoms. Their next step

is to

> test gentamicin's ability to affect pulmonary function.

>

> About 1,000 different types of CFTR miscues have been

identified. The

> type defined by Wilchanski, called a " stop mutation, " affects a

majority

> of people with cystic fibrosis in Israel. In the United States,

about 5

> percent of people, many of Ashkenazi descent, have the mutation.

Another

> type, known as delta-508, is more commonly diagnosed in the United

> States, Europe and Canada.

>

> Regardless of the mutation, disease manifestations are the same.

>

> Israeli scientists counted three " nonsense codes " as culprits

in the

> " stop mutation. " Nonsense coding is estimated to occur in 60

percent of

> cystic fibrosis cases in Ashkenazi Jews.

>

> Cystic fibrosis occurs mostly in whites and strikes one in every

> 3,200 live Caucasian births in this country, and 1,000 new cases

are

> diagnosed annually, according to statistics from the Cystic

Fibrosis

> Foundation. An estimated 30,000 children and adults in the United

States

> are afflicted and have an average life expectancy of 33.4 years.

>

> " This is a very important proof of principle, " Dr. Beall,

> president of the foundation in Bethesda, Md., said of Wilchanski's

work.

> " There is still a long way to go, " he added, to show that

gentamicin can

> correct the anomaly in the lungs.

>

> Beall said other disorders, such as Duchenne's muscular

dystrophy and

> Hurler 's syndrome, also may respond to correction by a member of

the

> antibiotic family to which gentamicin belongs: aminoglycosides.

Other

> members include streptomycin, neomycin, kanamycin and clindamycin.

>

> Despite excitement over gentamicin, Beall said researchers are

also

> pursuing " a number of small molecules in clinical trials " as well

as

> gene therapy.

>

> " Our goal is to try as many different approaches to tackle this

> disease as possible, " he said.

> *****************************************

>

>

>

>

>

_____________________________________________________________________

__

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-------------------------------------------

The opinions and information exchanged on this list should IN NO WAY

be construed as medical advice.

PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR

TREATMENTS.

------------------------------------

[Guest guest]

The main research is aimed at double delta 508. That is the majority

of the population and almost all the studies are aimed at correcting

this, the most common gene.

This is why sometimes I worry that perhaps there is not enough money

behind correcting the stop mutations (x) or other less common

mutations. Maybe this is my paranoia...

, I did not thank you personally for all the incredible work

you did during awareness week.

So, while this particular medicine may not help specifically,

it is not where the bulk of the research is going.

Lenora

>Neither of 's mutations end in x. Does this mean that this

>won't help her? Or is it not the major thrust of the research?

>

> CF NEWS FROM AROUND THE WORLD

> >

> >

> > CF News From Around the World

> > To subsribe go to www.esiason.org

> > To unsubscribe follow the link at the end of this email

> > ************************************

> > Newsday (New York)

> >

> > October 28, 2003 Tuesday NASSAU AND SUFFOLK EDITION

> >

> > HEADLINE: Antibiotic May Control, Not Cure Cystic Fibrosis

> >

> > BYLINE: By Delthia Ricks. STAFF WRITER

> >

> > An old-line antibiotic used for years against common infections

> may

> > have the remarkable ability to correct a genetic flaw in cystic

> > fibrosis, a finding that ultimately may lead to a new way of

> treating

> > the intractable genetic disease.

> >

> > Gentamicin, long a staple in the fight against bacteria, has the

> > unusual ability to override a major genetic defect in cystic

> fibrosis

> > and tweak DNA transcription involved in the entrance and exit of

> > chloride in cells.

> >

> > Just as a boss' memo must be transcribed for dispersal to

> workers,

> > something similar must occur in the transcription of messages from

> DNA,

> > the master text of life. Messages contained within DNA must be

> read and

> > then transcribed by the cellular stenographer, RNA, before a key

> protein

> > involved in proper chloride activity can be made.

> >

> > People with cystic fibrosis have specific DNA mutations,

> garbling

> > instructions for production of the protein that chaperones chloride

> > through channels.

> >

> > A study by Israeli researchers has shown that gentamicin

> corrects the

> > nonsense, allowing chloride to be escorted effortlessly in and out

> of

> > cells.

> >

> > The new work promises a way of controlling the disease, but

> probably

> > not curing it, doctors say. Moreover, the drug likely will be

> effective

> > only against the type of mutation predominantly seen among people

> of

> > Ashkenazi Jewish descent. Yet developing gentamicin as a therapy

> remains

> > years away.

> >

> > " The bottom line here is not to think of gentamicin as an

> > antibiotic, " said Dr. Durie, director of the Cystic Fibrosis

> > Center at the Hospital for Sick Children in Toronto. " Its role in

> this

> > study has nothing to do with [treating] infection. "

> >

> > Durie, an expert on cystic fibrosis who was not associated with

> the

> > experiments, said the discovery opens a window on research,

> > demonstrating that a well-known drug may have the power to

> influence

> > genes.

> >

> > " The idea behind this paper is that this concept can be used in

> other

> > genetic diseases, " he said.

> >

> > Poor chloride transport is a hallmark of cystic fibrosis. For

> years,

> > scientists have known that when chloride cannot pass freely

> through cell

> > membranes, the result can devastate physiologic function: the

> lungs,

> > digestion and, in males, fertility.

> >

> > People with cystic fibrosis have an array of symptoms, the most

> > serious of which is a viscous mucus in the lungs. Additionally,

> they are

> > consumed by persistent infections, coughing, wheezing and

> shortness of

> > breath. Mucus accumulation can provide a breeding ground for

> infections,

> > which can be deadly.

> >

> > The gentamicin discovery comes amid a flurry of developments in

> which

> > old antibiotics are being found to play new tricks.

> >

> > Researchers last year at Stony Brook University found that an

> altered

> > form of tetracycline could prevent the cascade of molecular events

> > leading to heart attacks. Dr. Lorne Golub of Stony Brook's dental

> school

> > began the studies more than two decades ago, stripping away

> > tetracycline's " side chains " - chemicals that give the drug its

> > antibacterial punch - and leaving behind a potent anti-inflammatory

> > medication.

> >

> > Golub, who named the stripped-down version Periostat in the

> 1980s as

> > a dental treatment, has found in recent studies that it helps

> prevent

> > blockage of blood vessels by plaque.

> >

> > The antibiotic minocycline is being tested against amyotrophic

> > lateral sclerosis, Lou Gehrig's disease. And scientists recently

> > announced that clioquinoline, an antibiotic lastused in the 1970s,

> is

> > being resurrected for tests in people with Alzheimer's disease.

> >

> > Testing gentamicin against cystic fibrosis, Durie said, is a

> sharp

> > departure from the gene therapy approach, which captured scientific

> > imagination in the 1980s and is still being pursued, though so far

> > without a cure. The process involves inserting a copy of " a good

> gene "

> > with correct chloride transport information into patients' cells.

> >

> > But if further study supports the gentamicin findings, the

> answer to

> > other, rarer DNA miscodes in cystic fibrosis already may be on

> pharmacy

> > shelves.

> >

> > The gentamicin discovery came from the work of Dr.

> Wilchanski

> > of Shaare Zedek Medical Center in Jerusalem, who studied 19

> children

> > with well-defined miscues in a gene dubbed CFTR. He reported in a

> recent

> > issue of The New England Journal of Medicine that administering the

> > antibiotic as nose drops

> > - two drops given three times daily for 14 days - corrected the

> genetic

> > flaw, but only in cells lining nasal tissue.

> >

> > Scientists did not administer enough medication to reach the

> > children's lungs or to have an impact on symptoms. Their next step

> is to

> > test gentamicin's ability to affect pulmonary function.

> >

> > About 1,000 different types of CFTR miscues have been

> identified. The

> > type defined by Wilchanski, called a " stop mutation, " affects a

> majority

> > of people with cystic fibrosis in Israel. In the United States,

> about 5

> > percent of people, many of Ashkenazi descent, have the mutation.

> Another

> > type, known as delta-508, is more commonly diagnosed in the United

> > States, Europe and Canada.

> >

> > Regardless of the mutation, disease manifestations are the same.

> >

> > Israeli scientists counted three " nonsense codes " as culprits

> in the

> > " stop mutation. " Nonsense coding is estimated to occur in 60

> percent of

> > cystic fibrosis cases in Ashkenazi Jews.

> >

> > Cystic fibrosis occurs mostly in whites and strikes one in every

> > 3,200 live Caucasian births in this country, and 1,000 new cases

> are

> > diagnosed annually, according to statistics from the Cystic

> Fibrosis

> > Foundation. An estimated 30,000 children and adults in the United

> States

> > are afflicted and have an average life expectancy of 33.4 years.

> >

> > " This is a very important proof of principle, " Dr. Beall,

> > president of the foundation in Bethesda, Md., said of Wilchanski's

> work.

> > " There is still a long way to go, " he added, to show that

> gentamicin can

> > correct the anomaly in the lungs.

> >

> > Beall said other disorders, such as Duchenne's muscular

> dystrophy and

> > Hurler 's syndrome, also may respond to correction by a member of

> the

> > antibiotic family to which gentamicin belongs: aminoglycosides.

> Other

> > members include streptomycin, neomycin, kanamycin and clindamycin.

> >

> > Despite excitement over gentamicin, Beall said researchers are

> also

> > pursuing " a number of small molecules in clinical trials " as well

> as

> > gene therapy.

> >

> > " Our goal is to try as many different approaches to tackle this

> > disease as possible, " he said.

> > *****************************************

> >

> >

> >

> >

> >

> _____________________________________________________________________

> __

> > Powered by List Builder

> > To unsubscribe follow the link:

> >

><http://lb.bcentral.com/ex/sp?c=4997 & s=232161269A416626 & m=429>http://lb.bcentra\

l.com/ex/sp?c=4997 & s=232161269A416626 & m=429

>

>

>

> -------------------------------------------

> The opinions and information exchanged on this list should IN NO WAY

> be construed as medical advice.

>

> PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR

> TREATMENTS.

>

> ------------------------------------

>

>

>