Guest guest Posted November 5, 2003 Report Share Posted November 5, 2003 Study Offers New Insight Into Rett Syndrome Rett Syndrome Research Foundation funded study leads to breakthrough for Rett syndrome research http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php Rett Syndrome is a major cause of mental retardation in girls. Although researchers have identified the protein involved in the disease, its exact role remains a mystery. Now, a group of researchers from Children's Hospital Boston and Whitehead Institute of Biomedical Research have identified the protein's function, a discovery the scientists say could be the first significant advance in Rett Syndrome research in years. The study, reported in this week's issue of the journal Science, describes how the protein in question controls gene expression in normal central nervous system cells. Researchers suspect that mutations in the protein impair its ability to regulate genes during a critical stage of brain development. “We think that this deregulation may be responsible for some of the defects that we see in Rett patients,†says Greenberg, director of the Children's Hospital group and a lead author of the study. A neurological disorder causing mental retardation as well as cerebral-palsy and autism-like symptoms, Rett Syndrome affects one out of approximately 15,000 female babies worldwide. Current therapies, including medications that help prevent seizures, treat some of the symptoms but not the disease. Researchers have long known that mutations in a protein called MeCP2 somehow cause the disease, but until recently, little was known about how the protein worked. Previous lab experiments demonstrated that MeCP2 binds to genes that have undergone methylation (a fundamental biological process in which the cell disables genes it doesn't use by modifying them with methyl). Like a biological deadbolt, MeCP2 adheres to these methylated genes, further preventing them from ever activating. As a result, scientists theorized that MeCP2 was what they call a “long-range gene repressor.†Rudolf Jaenisch's Whitehead lab has studied this protein for years, demonstrating that when MeCP2 is disabled in mice, the animals manifest Rett-like symptoms. But they couldn't figure out why this happens, and they couldn't find the exact genes that MeCP2 targets. At the same time, Greenberg, who also is a professor of neurobiology at Harvard Medical School, was studying a central nervous system gene that is highly active in infants age 6 to 18 months -- the same age that Rett symptoms first appear. Greenberg noted that this gene, called BDNF, constantly flips back and forth between an “on†state, where it rapidly produces protein, and an “off†state, during which it's silent. “We knew a lot about how it was turned on,†says Greenberg, “but we wanted to know what kept it off.†+ Article continues: http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php * * * Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 5, 2003 Report Share Posted November 5, 2003 Study Offers New Insight Into Rett Syndrome Rett Syndrome Research Foundation funded study leads to breakthrough for Rett syndrome research http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php Rett Syndrome is a major cause of mental retardation in girls. Although researchers have identified the protein involved in the disease, its exact role remains a mystery. Now, a group of researchers from Children's Hospital Boston and Whitehead Institute of Biomedical Research have identified the protein's function, a discovery the scientists say could be the first significant advance in Rett Syndrome research in years. The study, reported in this week's issue of the journal Science, describes how the protein in question controls gene expression in normal central nervous system cells. Researchers suspect that mutations in the protein impair its ability to regulate genes during a critical stage of brain development. “We think that this deregulation may be responsible for some of the defects that we see in Rett patients,†says Greenberg, director of the Children's Hospital group and a lead author of the study. A neurological disorder causing mental retardation as well as cerebral-palsy and autism-like symptoms, Rett Syndrome affects one out of approximately 15,000 female babies worldwide. Current therapies, including medications that help prevent seizures, treat some of the symptoms but not the disease. Researchers have long known that mutations in a protein called MeCP2 somehow cause the disease, but until recently, little was known about how the protein worked. Previous lab experiments demonstrated that MeCP2 binds to genes that have undergone methylation (a fundamental biological process in which the cell disables genes it doesn't use by modifying them with methyl). Like a biological deadbolt, MeCP2 adheres to these methylated genes, further preventing them from ever activating. As a result, scientists theorized that MeCP2 was what they call a “long-range gene repressor.†Rudolf Jaenisch's Whitehead lab has studied this protein for years, demonstrating that when MeCP2 is disabled in mice, the animals manifest Rett-like symptoms. But they couldn't figure out why this happens, and they couldn't find the exact genes that MeCP2 targets. At the same time, Greenberg, who also is a professor of neurobiology at Harvard Medical School, was studying a central nervous system gene that is highly active in infants age 6 to 18 months -- the same age that Rett symptoms first appear. Greenberg noted that this gene, called BDNF, constantly flips back and forth between an “on†state, where it rapidly produces protein, and an “off†state, during which it's silent. “We knew a lot about how it was turned on,†says Greenberg, “but we wanted to know what kept it off.†+ Article continues: http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php * * * Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 5, 2003 Report Share Posted November 5, 2003 > Study Offers New Insight Into Rett Syndrome > Rett Syndrome Research Foundation funded study leads to breakthrough for > Rett syndrome research > http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php > > Rett Syndrome is a major cause of mental retardation in girls. > Although researchers have identified the protein involved in the disease, > its exact role remains a mystery. Now, a group of researchers from > Children's Hospital Boston and Whitehead Institute of Biomedical Research > have identified the protein's function, a discovery the scientists say could > be the first significant advance in Rett Syndrome research in years. > The study, reported in this week's issue of the journal Science, > describes how the protein in question controls gene expression in normal > central nervous system cells. Researchers suspect that mutations in the > protein impair its ability to regulate genes during a critical stage of > brain development. > “We think that this deregulation may be responsible for some of the > defects that we see in Rett patients,†says Greenberg, director of > the Children's Hospital group and a lead author of the study. > A neurological disorder causing mental retardation as well as > cerebral-palsy and autism-like symptoms, Rett Syndrome affects one out of > approximately 15,000 female babies worldwide. Current therapies, including > medications that help prevent seizures, treat some of the symptoms but not > the disease. > Researchers have long known that mutations in a protein called MeCP2 > somehow cause the disease, but until recently, little was known about how > the protein worked. Previous lab experiments demonstrated that MeCP2 binds > to genes that have undergone methylation (a fundamental biological process > in which the cell disables genes it doesn't use by modifying them with > methyl). Like a biological deadbolt, MeCP2 adheres to these methylated > genes, further preventing them from ever activating. As a result, scientists > theorized that MeCP2 was what they call a “long-range gene repressor.†> Rudolf Jaenisch's Whitehead lab has studied this protein for years, > demonstrating that when MeCP2 is disabled in mice, the animals manifest > Rett-like symptoms. But they couldn't figure out why this happens, and they > couldn't find the exact genes that MeCP2 targets. > At the same time, Greenberg, who also is a professor of neurobiology > at Harvard Medical School, was studying a central nervous system gene that > is highly active in infants age 6 to 18 months -- the same age that Rett > symptoms first appear. Greenberg noted that this gene, called BDNF, > constantly flips back and forth between an “on†state, where it rapidly > produces protein, and an “off†state, during which it's silent. > “We knew a lot about how it was turned on,†says Greenberg, “but we > wanted to know what kept it off.†> + Article continues: > http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php > * * * > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 5, 2003 Report Share Posted November 5, 2003 > Study Offers New Insight Into Rett Syndrome > Rett Syndrome Research Foundation funded study leads to breakthrough for > Rett syndrome research > http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php > > Rett Syndrome is a major cause of mental retardation in girls. > Although researchers have identified the protein involved in the disease, > its exact role remains a mystery. Now, a group of researchers from > Children's Hospital Boston and Whitehead Institute of Biomedical Research > have identified the protein's function, a discovery the scientists say could > be the first significant advance in Rett Syndrome research in years. > The study, reported in this week's issue of the journal Science, > describes how the protein in question controls gene expression in normal > central nervous system cells. Researchers suspect that mutations in the > protein impair its ability to regulate genes during a critical stage of > brain development. > “We think that this deregulation may be responsible for some of the > defects that we see in Rett patients,†says Greenberg, director of > the Children's Hospital group and a lead author of the study. > A neurological disorder causing mental retardation as well as > cerebral-palsy and autism-like symptoms, Rett Syndrome affects one out of > approximately 15,000 female babies worldwide. Current therapies, including > medications that help prevent seizures, treat some of the symptoms but not > the disease. > Researchers have long known that mutations in a protein called MeCP2 > somehow cause the disease, but until recently, little was known about how > the protein worked. Previous lab experiments demonstrated that MeCP2 binds > to genes that have undergone methylation (a fundamental biological process > in which the cell disables genes it doesn't use by modifying them with > methyl). Like a biological deadbolt, MeCP2 adheres to these methylated > genes, further preventing them from ever activating. As a result, scientists > theorized that MeCP2 was what they call a “long-range gene repressor.†> Rudolf Jaenisch's Whitehead lab has studied this protein for years, > demonstrating that when MeCP2 is disabled in mice, the animals manifest > Rett-like symptoms. But they couldn't figure out why this happens, and they > couldn't find the exact genes that MeCP2 targets. > At the same time, Greenberg, who also is a professor of neurobiology > at Harvard Medical School, was studying a central nervous system gene that > is highly active in infants age 6 to 18 months -- the same age that Rett > symptoms first appear. Greenberg noted that this gene, called BDNF, > constantly flips back and forth between an “on†state, where it rapidly > produces protein, and an “off†state, during which it's silent. > “We knew a lot about how it was turned on,†says Greenberg, “but we > wanted to know what kept it off.†> + Article continues: > http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php > * * * > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2011 Report Share Posted August 26, 2011 Hello all, I am about to start working on a 6 year old girl with Rett syndrome. It is not something I have come across before so any advice or suggestions for our Indigo sessions plus anything else would be hugely appreciated, Many many thanks, K Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 7, 2011 Report Share Posted September 7, 2011 Looking for a specialist in the Kansas City Missouri area. JD CHS., CNHP, MH Bio-energetics Specialist Ozark Herb and Spice 479-254-9230 479-387-4646 Brokenvase2004@... Quote Link to comment Share on other sites More sharing options...
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