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Hi everyone, I am trying to find out the exact gene that the

Ashkenazi Jews carry for CF. Does anyone know?

Thank you,

Lenora

>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

>

>

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I just discussed this drug with Zach's cf doc. His theory is that

even if a person has one stop mutation and this medicine can correct

it then they could become asymptomatic like a cf carrier. Zach has

a stop mutation but not the one used in this study, but it is still

hope.

Sara - mommy of Zach 20 months wcf

>

> I am sure many get this , but just in case . I felt it was VERY

> encouraging & interesting.

>

>

> LOVE & HUGS, grandmoMBEV

>

> 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

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Share on other sites

Lenora; many, but some predominate more than others;

but we are talking in hundreds here, depending on region

of origin, Askenazi Jews being most Jews not from the

Eastern Mediterranean, North Africa or Spain, Portugal

and Italy, although there are always exceptions. I belong

to the latter group; my husband was Ashkenazi; we each

carried one deltaf508; our kid wcf got two; I have one

deltaf508 and one R1162 from Northeastern Italy, where

my grandmother's family originated. I can try to look this

up and get more data but I recall last reading on the s

Hopkins site that Deltaf508 was very common amongst

Ashkenazi Jews who had intermarried in the past with most European and

Eastern European populations. There

are many others who will have more to say on this--but the answer you are

looking for is not simple nor limited to

only a few mutations.

Let me do some hunting and get back to you,

Love, Lenora, we owe you so much for CFAwareness

Week! You and Sen. Ben Nighthorse! And yes, Native

Americans do get cf, too!

n

Rojas5915@...

Re: FW: CF NEWS FROM AROUND THE WORLD

> Hi everyone, I am trying to find out the exact gene that the

> Ashkenazi Jews carry for CF. Does anyone know?

> Thank you,

> Lenora

>

> >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.bce

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

> >

> >

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Share on other sites

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

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

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.

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

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Share on other sites

Thanks for yours & his input. It is interesting how the docs think about

all these things we read & hear.

LOVE & HUGS,

GrandmoMBEV

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

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

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.

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

Link to comment
Share on other sites

At eMedicine www.emedicine.com/PED/topic2995.htm one note states that W1282X is

common in Ashkenazi Jews.

But I just plugged " Cystic Fibrosis Mutation in Ashkenazi Jews into my search.

That is one of the hits that I got.

Re: FW: CF NEWS FROM AROUND THE WORLD

Hi everyone, I am trying to find out the exact gene that the

Ashkenazi Jews carry for CF. Does anyone know?

Thank you,

Lenora

>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

>

>

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Share on other sites

Although I joined this list because of my niece I thought I should also share

that I am a cf carrier. I found this out 3 yrs ago because I have chronic

pancreatitis as one of my health issues. The doctor ran a gene mutation study

because we have never been able to determine the cause of my pancreatitis (I've

had it since 1989) and there was a possible link between cf and pancreatitis. It

came back that I am a carrier. I have one copy of the W1282X.

As it turns out, my niece has that one, as well, so we are assuming that's the

one she got from my sister. I don't know which one she got from her dad.

I don't know if my family is aware of this study but I will certainly enlighten

them.

Jill

Re: FW: CF NEWS FROM AROUND THE WORLD

Hi everyone, I am trying to find out the exact gene that the

Ashkenazi Jews carry for CF. Does anyone know?

Thank you,

Lenora

>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

>

>

Link to comment
Share on other sites

http://www.newsday.com/news/health/ny-dsbelow3513221oct28,0,268991.story?coll=ny\

-health-headlines

Re: FW: CF NEWS FROM AROUND THE WORLD

>

>

> Hi everyone, I am trying to find out the exact gene that the

> Ashkenazi Jews carry for CF. Does anyone know?

> Thank you,

> Lenora

>

> >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.bce

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> >

> >

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Hi Jill,

We recently met a dad with a child with cf that takes enzymes. he

is a carrier, but has had digestion problems. The enzymes helped a

lot he say says. This might be something to discuss with your

doctor. The theory is that even people who are carriers may be

lacking some CFTR function that could appear as digestion problems,

sinus problems, infertility, etc.

Just a thought.

Sara

> Although I joined this list because of my niece I thought I should

also share that I am a cf carrier. I found this out 3 yrs ago

because I have chronic pancreatitis as one of my health issues. The

doctor ran a gene mutation study because we have never been able to

determine the cause of my pancreatitis (I've had it since 1989) and

there was a possible link between cf and pancreatitis. It came back

that I am a carrier. I have one copy of the W1282X.

>

> As it turns out, my niece has that one, as well, so we are

assuming that's the one she got from my sister. I don't know which

one she got from her dad.

>

> I don't know if my family is aware of this study but I will

certainly enlighten them.

>

> Jill

> Re: FW: CF NEWS FROM AROUND THE WORLD

>

>

> Hi everyone, I am trying to find out the exact gene that the

> Ashkenazi Jews carry for CF. Does anyone know?

> Thank you,

> Lenora

>

> >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.bcentral.com/ex/sp?

c=4997 & s=232161269A416626 & m=429

> >

> >

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Hi, Sara

Thank you so much for your comments. Because of my pancreatitis, I've been on

Viokase 16 (enzyme) on and off since 1989. For the most part they don't help me

too much but I know many people with chronic pancreatitis that get tremendous

help from them. I am currently on them, again. We'll see. I do have some of the

cf issues that you mentioned- sinus problems, digestive difficulty, chronic

pancreatitis.

Anyway, I appreciate your email. Thanks, again.

Jill

Re: FW: CF NEWS FROM AROUND THE WORLD

Hi Jill,

We recently met a dad with a child with cf that takes enzymes. he

is a carrier, but has had digestion problems. The enzymes helped a

lot he say says. This might be something to discuss with your

doctor. The theory is that even people who are carriers may be

lacking some CFTR function that could appear as digestion problems,

sinus problems, infertility, etc.

Just a thought.

Sara

> Although I joined this list because of my niece I thought I should

also share that I am a cf carrier. I found this out 3 yrs ago

because I have chronic pancreatitis as one of my health issues. The

doctor ran a gene mutation study because we have never been able to

determine the cause of my pancreatitis (I've had it since 1989) and

there was a possible link between cf and pancreatitis. It came back

that I am a carrier. I have one copy of the W1282X.

>

> As it turns out, my niece has that one, as well, so > > " stop mutation. "

Nonsense coding is estimated to occur in 60

percent of

> >cystic fibrosis cases in Ashkenazi Jews.

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