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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.â€

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.â€

+ Article continues:

http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php

* * *

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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.â€

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.â€

+ Article continues:

http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php

* * *

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> 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.â€

> 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.â€

> + Article continues:

> http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php

> * * *

>

>

Link to comment
Share on other sites

> 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.â€

> 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.â€

> + Article continues:

> http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php

> * * *

>

>

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  • 7 years later...

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

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  • 2 weeks later...

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