Re: Gene Linked to Scoliosis Identified

June 26, 2007

interesting cris y dotn u come on msn anymore i miss u

>

> WASHINGTON: A collaborative study led by researchers at Washington

> University School of Medicine has discovered the first gene linked

> to scoliosis, a disease that affects about three per cent of

> children.

>

> The finding, published in the American Journal of Human Genetics, is

> significant because the causes of scoliosis have remained a mystery

> for centuries.

>

> It lays the groundwork for determining how a defect in the CHD7

> gene, which is thought to play a critical role in many basic

> functions in the cell, leads to the C and S-shaped curves that

> characterize scoliosis.

>

> " Hopefully, we can now begin to understand the steps by which the

> gene affects spinal development, " says Dr. Anne Bowcock, Professor

> of Genetics, Medicine, and pediatrics.

>

> " If we understand the genetic basis of the condition, we can

> theoretically predict who is going to develop scoliosis and develop

> treatments to intervene before the deformity sets in. It may take

> many years to accomplish these goals, but I think it will eventually

> happen, " she adds.

>

> The researchers believe that the reason behind why scoliosis runs in

> families may be because the condition is likely caused by several

> different genes that work in concert with one another.

>

> Dr. Bowcock believes that scientists will soon come up with other

> genetic findings associated with the disease.

>

> The researchers zeroed in on the CHD7 gene was missing or profoundly

> disrupted in a rare syndrome called CHARGE, babies born with which

> often die in infancy. Children who survive develop heart defects,

> mental retardation, genital and urinary problems, ear abnormalities,

> and deafness among other problems. They also develop late-onset

> scoliosis.

>

> " This led us to consider that milder variations of CHD7 may be

> involved in other types of scoliosis, " Bowcock said.

>

> Led by Dr. Carol Wise, the researchers collected data on 52 families

> with a history of scoliosis in at least two members—the one who

> sought treatment and another from earlier generation. The patients

> had an average spinal curvature of 40 degrees and did not have any

> illnesses, such as Marfan syndrome or cerebral palsy, which can also

> involve scoliosis.

>

> Upon analysing the data by conducting genome-wide scans, the

> researchers found that patients with scoliosis very often had a

> defect in the gene's non-coding region, an indication that the error

> did not disrupt production of the CHD7 protein.

>

> The researchers speculate that this particular mutation alters the

> binding of a molecule that controls whether the gene is turned on.

> They think the gene is turned off more often than it should be,

> which reduces the amount of CHD7 protein produced.

>

> " The change in the amount of the protein produced is subtle, which

> correlates with the onset of scoliosis, which typically happens very

> gradually. This particular defect was so highly associated with

> scoliosis that it is either the real McCoy or is very closely linked

> to the defect that causes the condition, " explains Dr.

> Lovett, Professor of Genetics and Pediatrics.

>

> The researchers say that they will continue to look for genetic

> variations involved in scoliosis by studying additional families

> with the condition.

>

--

stand up and speak up!!!!!!! and dont let the world hold you back just go

for it

June 26, 2007

Important find! Thanks for sending this to the list.

Gene Linked to Scoliosis Identified

WASHINGTON: A collaborative study led by researchers at Washington

University School of Medicine has discovered the first gene linked

to scoliosis, a disease that affects about three per cent of

children.

The finding, published in the American Journal of Human Genetics, is

significant because the causes of scoliosis have remained a mystery

for centuries.

It lays the groundwork for determining how a defect in the CHD7

gene, which is thought to play a critical role in many basic

functions in the cell, leads to the C and S-shaped curves that

characterize scoliosis.

" Hopefully, we can now begin to understand the steps by which the

gene affects spinal development, " says Dr. Anne Bowcock, Professor

of Genetics, Medicine, and pediatrics.

" If we understand the genetic basis of the condition, we can

theoretically predict who is going to develop scoliosis and develop

treatments to intervene before the deformity sets in. It may take

many years to accomplish these goals, but I think it will eventually

happen, " she adds.

The researchers believe that the reason behind why scoliosis runs in

families may be because the condition is likely caused by several

different genes that work in concert with one another.

Dr. Bowcock believes that scientists will soon come up with other

genetic findings associated with the disease.

The researchers zeroed in on the CHD7 gene was missing or profoundly

disrupted in a rare syndrome called CHARGE, babies born with which

often die in infancy. Children who survive develop heart defects,

mental retardation, genital and urinary problems, ear abnormalities,

and deafness among other problems. They also develop late-onset

scoliosis.

" This led us to consider that milder variations of CHD7 may be

involved in other types of scoliosis, " Bowcock said.

Led by Dr. Carol Wise, the researchers collected data on 52 families

with a history of scoliosis in at least two members-the one who

sought treatment and another from earlier generation. The patients

had an average spinal curvature of 40 degrees and did not have any

illnesses, such as Marfan syndrome or cerebral palsy, which can also

involve scoliosis.

Upon analysing the data by conducting genome-wide scans, the

researchers found that patients with scoliosis very often had a

defect in the gene's non-coding region, an indication that the error

did not disrupt production of the CHD7 protein.

The researchers speculate that this particular mutation alters the

binding of a molecule that controls whether the gene is turned on.

They think the gene is turned off more often than it should be,

which reduces the amount of CHD7 protein produced.

" The change in the amount of the protein produced is subtle, which

correlates with the onset of scoliosis, which typically happens very

gradually. This particular defect was so highly associated with

scoliosis that it is either the real McCoy or is very closely linked

to the defect that causes the condition, " explains Dr.

Lovett, Professor of Genetics and Pediatrics.

The researchers say that they will continue to look for genetic

variations involved in scoliosis by studying additional families

with the condition.

June 26, 2007

Crystal-

That is fascinating! I almost didn't read it. It's late, I'm tired, but

I'm glad the CHD7 bit caught my eye! I'm printing this out for her

orthopedic dr in St Louis.

Michele W

Aubrie's mom

June 27, 2007

What is up with the mental retardation? I thought it was retardation in GROWTH!

If I am right why hasn't the DANG@#! medical field gotten on board?

, Randy & Garland Goodwin

---- supermama95 supermama95@...> wrote:

=============

WASHINGTON: A collaborative study led by researchers at Washington

University School of Medicine has discovered the first gene linked

to scoliosis, a disease that affects about three per cent of

children.

The finding, published in the American Journal of Human Genetics, is

significant because the causes of scoliosis have remained a mystery

for centuries.

It lays the groundwork for determining how a defect in the CHD7

gene, which is thought to play a critical role in many basic

functions in the cell, leads to the C and S-shaped curves that

characterize scoliosis.

" Hopefully, we can now begin to understand the steps by which the

gene affects spinal development, " says Dr. Anne Bowcock, Professor

of Genetics, Medicine, and pediatrics.

" If we understand the genetic basis of the condition, we can

theoretically predict who is going to develop scoliosis and develop

treatments to intervene before the deformity sets in. It may take

many years to accomplish these goals, but I think it will eventually

happen, " she adds.

The researchers believe that the reason behind why scoliosis runs in

families may be because the condition is likely caused by several

different genes that work in concert with one another.

Dr. Bowcock believes that scientists will soon come up with other

genetic findings associated with the disease.

The researchers zeroed in on the CHD7 gene was missing or profoundly

disrupted in a rare syndrome called CHARGE, babies born with which

often die in infancy. Children who survive develop heart defects,

mental retardation, genital and urinary problems, ear abnormalities,

and deafness among other problems. They also develop late-onset

scoliosis.

" This led us to consider that milder variations of CHD7 may be

involved in other types of scoliosis, " Bowcock said.

Led by Dr. Carol Wise, the researchers collected data on 52 families

with a history of scoliosis in at least two membersÂ—the one who

sought treatment and another from earlier generation. The patients

had an average spinal curvature of 40 degrees and did not have any

illnesses, such as Marfan syndrome or cerebral palsy, which can also

involve scoliosis.

Upon analysing the data by conducting genome-wide scans, the

researchers found that patients with scoliosis very often had a

defect in the gene's non-coding region, an indication that the error

did not disrupt production of the CHD7 protein.

The researchers speculate that this particular mutation alters the

binding of a molecule that controls whether the gene is turned on.

They think the gene is turned off more often than it should be,

which reduces the amount of CHD7 protein produced.

" The change in the amount of the protein produced is subtle, which

correlates with the onset of scoliosis, which typically happens very

gradually. This particular defect was so highly associated with

scoliosis that it is either the real McCoy or is very closely linked

to the defect that causes the condition, " explains Dr.

Lovett, Professor of Genetics and Pediatrics.

The researchers say that they will continue to look for genetic

variations involved in scoliosis by studying additional families

with the condition.

June 27, 2007

Note it also states that babies who survive with CHARGE " develop " these

problems; not that they are born with these problems. (And, my " editor " hat

is on: This whole paragraph is just poorly written!)

" The researchers zeroed in on the CHD7 gene was missing or profoundly

disrupted in a rare syndrome called CHARGE, babies born with which

often die in infancy. Children who survive develop heart defects, mental

retardation,

genital and urinary problems, ear abnormalities, and deafness among other

problems.

They also develop late-onset scoliosis. "

Don't get me wrong: I think it is terrific they have a place to start

looking for scoliosis problems, but can't they at least get the most basic

information correct?

Friends in CHARGE,

Marilyn Ogan

Mom of (14, CHARGE+, JRA)

Mom of Ken (17, Aspergers)

Wife of Rick

oganm@...

_____

From: CHARGE [mailto:CHARGE ] On Behalf Of

& Randy

Sent: Wednesday, June 27, 2007 9:01 AM

To: CHARGE

Cc: supermama95

Subject: Re: Gene Linked to Scoliosis Identified

What is up with the mental retardation? I thought it was retardation in

GROWTH!

If I am right why hasn't the DANG@#! medical field gotten on board?

, Randy & Garland Goodwin

June 27, 2007

I think most of the literature states retardation of growth and development;

they just decide to lump it all together and call it MR.

Lis

>

> What is up with the mental retardation? I thought it was retardation in

> GROWTH!

>

> If I am right why hasn't the DANG@#! medical field gotten on board?

>

> , Randy & Garland Goodwin

>

> ---- supermama95 supermama95@... > wrote:

>

> =============

> WASHINGTON: A collaborative study led by researchers at Washington

> University School of Medicine has discovered the first gene linked

> to scoliosis, a disease that affects about three per cent of

> children.

>

> The finding, published in the American Journal of Human Genetics, is

> significant because the causes of scoliosis have remained a mystery

> for centuries.

>

> It lays the groundwork for determining how a defect in the CHD7

> gene, which is thought to play a critical role in many basic

> functions in the cell, leads to the C and S-shaped curves that

> characterize scoliosis.

>

> " Hopefully, we can now begin to understand the steps by which the

> gene affects spinal development, " says Dr. Anne Bowcock, Professor

> of Genetics, Medicine, and pediatrics.

>

> " If we understand the genetic basis of the condition, we can

> theoretically predict who is going to develop scoliosis and develop

> treatments to intervene before the deformity sets in. It may take

> many years to accomplish these goals, but I think it will eventually

> happen, " she adds.

>

> The researchers believe that the reason behind why scoliosis runs in

> families may be because the condition is likely caused by several

> different genes that work in concert with one another.

>

> Dr. Bowcock believes that scientists will soon come up with other

> genetic findings associated with the disease.

>

> The researchers zeroed in on the CHD7 gene was missing or profoundly

> disrupted in a rare syndrome called CHARGE, babies born with which

> often die in infancy. Children who survive develop heart defects,

> mental retardation, genital and urinary problems, ear abnormalities,

> and deafness among other problems. They also develop late-onset

> scoliosis.

>

> " This led us to consider that milder variations of CHD7 may be

> involved in other types of scoliosis, " Bowcock said.

>

> Led by Dr. Carol Wise, the researchers collected data on 52 families

> with a history of scoliosis in at least two members—the one who

> sought treatment and another from earlier generation. The patients

> had an average spinal curvature of 40 degrees and did not have any

> illnesses, such as Marfan syndrome or cerebral palsy, which can also

> involve scoliosis.

>

> Upon analysing the data by conducting genome-wide scans, the

> researchers found that patients with scoliosis very often had a

> defect in the gene's non-coding region, an indication that the error

> did not disrupt production of the CHD7 protein.

>

> The researchers speculate that this particular mutation alters the

> binding of a molecule that controls whether the gene is turned on.

> They think the gene is turned off more often than it should be,

> which reduces the amount of CHD7 protein produced.

>

> " The change in the amount of the protein produced is subtle, which

> correlates with the onset of scoliosis, which typically happens very

> gradually. This particular defect was so highly associated with

> scoliosis that it is either the real McCoy or is very closely linked

> to the defect that causes the condition, " explains Dr.

> Lovett, Professor of Genetics and Pediatrics.

>

> The researchers say that they will continue to look for genetic

> variations involved in scoliosis by studying additional families

> with the condition.

>

--

Weir

Personal Web Site:

http://chargesyndrome.info

The Adventures of Kennedy Blog:

http://chargesyndrome.blogspot.com

Secretary, CHARGE Syndrome Foundation Inc:

http://www.chargesyndrome.org

Email:

lisa@...

" It is far better to grasp the universe as it really is than to persist in

delusion, however satisfying and reassuring. " --Carl Sagan

June 27, 2007

That is just wrong! Also very misleading!

, Randy & Garland Goodwin

---- Weir kawfolks@...> wrote:

=============

I think most of the literature states retardation of growth and development;

they just decide to lump it all together and call it MR.

Lis

>

> What is up with the mental retardation? I thought it was retardation in

> GROWTH!

>

> If I am right why hasn't the DANG@#! medical field gotten on board?

>

> , Randy & Garland Goodwin

>

> ---- supermama95 supermama95@... > wrote:

>

> =============

> WASHINGTON: A collaborative study led by researchers at Washington

> University School of Medicine has discovered the first gene linked

> to scoliosis, a disease that affects about three per cent of

> children.

>

> The finding, published in the American Journal of Human Genetics, is

> significant because the causes of scoliosis have remained a mystery

> for centuries.

>

> It lays the groundwork for determining how a defect in the CHD7

> gene, which is thought to play a critical role in many basic

> functions in the cell, leads to the C and S-shaped curves that

> characterize scoliosis.

>

> " Hopefully, we can now begin to understand the steps by which the

> gene affects spinal development, " says Dr. Anne Bowcock, Professor

> of Genetics, Medicine, and pediatrics.

>

> " If we understand the genetic basis of the condition, we can

> theoretically predict who is going to develop scoliosis and develop

> treatments to intervene before the deformity sets in. It may take

> many years to accomplish these goals, but I think it will eventually

> happen, " she adds.

>

> The researchers believe that the reason behind why scoliosis runs in

> families may be because the condition is likely caused by several

> different genes that work in concert with one another.

>

> Dr. Bowcock believes that scientists will soon come up with other

> genetic findings associated with the disease.

>

> The researchers zeroed in on the CHD7 gene was missing or profoundly

> disrupted in a rare syndrome called CHARGE, babies born with which

> often die in infancy. Children who survive develop heart defects,

> mental retardation, genital and urinary problems, ear abnormalities,

> and deafness among other problems. They also develop late-onset

> scoliosis.

>

> " This led us to consider that milder variations of CHD7 may be

> involved in other types of scoliosis, " Bowcock said.

>

> Led by Dr. Carol Wise, the researchers collected data on 52 families

> with a history of scoliosis in at least two membersÂ—the one who

> sought treatment and another from earlier generation. The patients

> had an average spinal curvature of 40 degrees and did not have any

> illnesses, such as Marfan syndrome or cerebral palsy, which can also

> involve scoliosis.

>

> Upon analysing the data by conducting genome-wide scans, the

> researchers found that patients with scoliosis very often had a

> defect in the gene's non-coding region, an indication that the error

> did not disrupt production of the CHD7 protein.

>

> The researchers speculate that this particular mutation alters the

> binding of a molecule that controls whether the gene is turned on.

> They think the gene is turned off more often than it should be,

> which reduces the amount of CHD7 protein produced.

>

> " The change in the amount of the protein produced is subtle, which

> correlates with the onset of scoliosis, which typically happens very

> gradually. This particular defect was so highly associated with

> scoliosis that it is either the real McCoy or is very closely linked

> to the defect that causes the condition, " explains Dr.

> Lovett, Professor of Genetics and Pediatrics.

>

> The researchers say that they will continue to look for genetic

> variations involved in scoliosis by studying additional families

> with the condition.

>

--

Weir

Personal Web Site:

http://chargesyndrome.info

The Adventures of Kennedy Blog:

http://chargesyndrome.blogspot.com

Secretary, CHARGE Syndrome Foundation Inc:

http://www.chargesyndrome.org

Email:

lisa@...

" It is far better to grasp the universe as it really is than to persist in

delusion, however satisfying and reassuring. " --Carl Sagan

June 27, 2007

Can I just say that while there should not be a focus on the MR part, there

are kids with CHARGE who also have significant intellectual impairments and

separate from their hearing and vision issues.

Also, Fyi, the words ¡§mental retardation¡¨ are being replaced with

Intellectual Impairments.

pam

On 6/27/07 10:03 AM, " & Randy " michelle.goodwin@...>

wrote:

>

> That is just wrong! Also very misleading!

> , Randy & Garland Goodwin

>

> ---- Weir kawfolks@... > wrote:

>

> =============

> I think most of the literature states retardation of growth and development;

> they just decide to lump it all together and call it MR.

> Lis

>

> On 6/27/07, & Randy michelle.goodwin@...

> > wrote:

>> >

>> > What is up with the mental retardation? I thought it was retardation in

>> > GROWTH!

>> >

>> > If I am right why hasn't the DANG@#! medical field gotten on board?

>> >

>> > , Randy & Garland Goodwin

>> >

>> > ---- supermama95 supermama95@...

>> > wrote:

>> >

>> > =============

>> > WASHINGTON: A collaborative study led by researchers at Washington

>> > University School of Medicine has discovered the first gene linked

>> > to scoliosis, a disease that affects about three per cent of

>> > children.

>> >

>> > The finding, published in the American Journal of Human Genetics, is

>> > significant because the causes of scoliosis have remained a mystery

>> > for centuries.

>> >

>> > It lays the groundwork for determining how a defect in the CHD7

>> > gene, which is thought to play a critical role in many basic

>> > functions in the cell, leads to the C and S-shaped curves that

>> > characterize scoliosis.

>> >

>> > " Hopefully, we can now begin to understand the steps by which the

>> > gene affects spinal development, " says Dr. Anne Bowcock, Professor

>> > of Genetics, Medicine, and pediatrics.

>> >

>> > " If we understand the genetic basis of the condition, we can

>> > theoretically predict who is going to develop scoliosis and develop

>> > treatments to intervene before the deformity sets in. It may take

>> > many years to accomplish these goals, but I think it will eventually

>> > happen, " she adds.

>> >

>> > The researchers believe that the reason behind why scoliosis runs in

>> > families may be because the condition is likely caused by several

>> > different genes that work in concert with one another.

>> >

>> > Dr. Bowcock believes that scientists will soon come up with other

>> > genetic findings associated with the disease.

>> >

>> > The researchers zeroed in on the CHD7 gene was missing or profoundly

>> > disrupted in a rare syndrome called CHARGE, babies born with which

>> > often die in infancy. Children who survive develop heart defects,

>> > mental retardation, genital and urinary problems, ear abnormalities,

>> > and deafness among other problems. They also develop late-onset

>> > scoliosis.

>> >

>> > " This led us to consider that milder variations of CHD7 may be

>> > involved in other types of scoliosis, " Bowcock said.

>> >

>> > Led by Dr. Carol Wise, the researchers collected data on 52 families

>> > with a history of scoliosis in at least two members?the one who

>> > sought treatment and another from earlier generation. The patients

>> > had an average spinal curvature of 40 degrees and did not have any

>> > illnesses, such as Marfan syndrome or cerebral palsy, which can also

>> > involve scoliosis.

>> >

>> > Upon analysing the data by conducting genome-wide scans, the

>> > researchers found that patients with scoliosis very often had a

>> > defect in the gene's non-coding region, an indication that the error

>> > did not disrupt production of the CHD7 protein.

>> >

>> > The researchers speculate that this particular mutation alters the

>> > binding of a molecule that controls whether the gene is turned on.

>> > They think the gene is turned off more often than it should be,

>> > which reduces the amount of CHD7 protein produced.

>> >

>> > " The change in the amount of the protein produced is subtle, which

>> > correlates with the onset of scoliosis, which typically happens very

>> > gradually. This particular defect was so highly associated with

>> > scoliosis that it is either the real McCoy or is very closely linked

>> > to the defect that causes the condition, " explains Dr.

>> > Lovett, Professor of Genetics and Pediatrics.

>> >

>> > The researchers say that they will continue to look for genetic

>> > variations involved in scoliosis by studying additional families

>> > with the condition.

>> >

--

Pamela J. , M.A., CAGS

Licensed Educational Psychologist

Deafblind Program

Perkins School for the Blind

175 N. Beacon St.

Watertown, MA 02472

June 27, 2007

I wasn't sure about this article when I first read it so I went to google and

searched scoliosis and CHD7. It came up with page after page from journals that

are linking the two. This concerns me because I have S type scoliosis. If it

is caused by a mutation of CHD7 could that have caused Jack to be born with

CHARGE?

Meg, if my husband and I get tested for the mutation would such a slight

mutation show up on the test? Even if not, do I have an increased risk of

having another child with CHARGE? Isn't the percentage something like 50% when

you have the mutation? Is there anything you can do to lower the odds?

I'm going to work hard to find my medical records that show the diagnosis to see

if it is ideopathic. I don't even know if they distinguished these things back

then. I was like 8 when I was diagnosed so I don't remember any specifics and

my mom can't remember either.

~

Mom of Jack (9mo. CHARGEr)

Jack has a carepage! www.carepages.com Title: Jackspage

________________________________________________________________________________\

___

You snooze, you lose. Get messages ASAP with AutoCheck

in the all-new Yahoo! Mail Beta.

http://advision.webevents.yahoo.com/mailbeta/newmail_html.html

June 27, 2007

,

I googled it, too and got similar results. From a very careful

reading of the report on CHD7 and scoliosis, my understanding is that

it seems to be different form causing CHARGE. The CHD7 change they

found in families with scoliosis was what is called a " polymorphism in

a non-coding region. " Translated to regular language: a polymorphism

is a variant seen in NORMAL people, not a disease-causing mutation. A

non-coding region is part of the DNA which is spliced out - it does

not change the resulting protein. It may change how much of the

protein is made. Polymorphisms are often associated with an increased

chance of something (like higher chance of eventually developing

diabetes or arthritis and things like that), rather than a specific

cause of a disease.

CHD7 is a regulatory gene - so it makes sense that variants in it may

change likelihood of lots of different things. agree with Brownie

that it is really cool that lots of people are looking closely at this

gene and seeing what it does in lots of situations.

, to answer part of your specific question, I don't know if the

reported CHD7 polymorphism would show up in CHARGE CHD7 testing or

not. I think the question about scoliosis in a parent - and does that

have anything to do with CHARGE mutations in CHD7? - is an interesting

one. I dont' have an answer. I'm really looking forward to hearing

what the research folks say in California next month. If they don't

specifically address this issue, I'll ask them. We've really gott let

this settle a bit before jumping to any conclusions.

Meg

Meg Hefner MS

Genetic counselor St. Louis MO

>

> I wasn't sure about this article when I first read it so I went to

google and searched scoliosis and CHD7. It came up with page after

page from journals that are linking the two. This concerns me because

I have S type scoliosis. If it is caused by a mutation of CHD7 could

that have caused Jack to be born with CHARGE?

>

> Meg, if my husband and I get tested for the mutation would such a

slight mutation show up on the test? Even if not, do I have an

increased risk of having another child with CHARGE? Isn't the

percentage something like 50% when you have the mutation? Is there

anything you can do to lower the odds?

>

> I'm going to work hard to find my medical records that show the

diagnosis to see if it is ideopathic. I don't even know if they

distinguished these things back then. I was like 8 when I was

diagnosed so I don't remember any specifics and my mom can't remember

either.

>

> ~

> Mom of Jack (9mo. CHARGEr)

> Jack has a carepage! www.carepages.com Title: Jackspage

>

________________________________________________________________________________\

___

> You snooze, you lose. Get messages ASAP with AutoCheck

> in the all-new Yahoo! Mail Beta.

> http://advision.webevents.yahoo.com/mailbeta/newmail_html.html

>

June 27, 2007