Guest guest Posted October 28, 2003 Report Share Posted October 28, 2003 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 > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2003 Report Share Posted October 28, 2003 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 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2003 Report Share Posted October 28, 2003 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 > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2003 Report Share Posted October 28, 2003 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. ------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2003 Report Share Posted October 28, 2003 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. ------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2003 Report Share Posted October 28, 2003 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 > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2003 Report Share Posted October 28, 2003 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 > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2003 Report Share Posted October 28, 2003 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 ntral.com/ex/sp?c=4997 & s=232161269A416626 & m=429 > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2003 Report Share Posted October 31, 2003 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 > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 1, 2003 Report Share Posted November 1, 2003 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. Quote Link to comment Share on other sites More sharing options...
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