Re: Study: Rare gene change linked to autism

[Guest guest]

Study: Rare gene change linked to autismBy LINDA A. JOHNSONASSOCIATED PRESS WRITERhttp://seattlepi.nwsource.com/health/1500ap_autism_gene.htmlA rare genetic variation dramatically raises the risk of developingautism, a large study showed, opening new research targets for betterunderstanding the disorder and for treating it.Research into the causes of autism has focused on genetic causesbecause so many families have multiple children with the disorder.Thus far, only about 10 percent of autism cases have a known geneticcause. Boston-area researchers estimate the gene glitch they'veidentified accounts for another 1 percent of cases.They found a segment of a chromosome which has genes linked to braindevelopment and various developmental disorders was either missing orduplicated far more often in autistic people. The defect was inheritedin some cases, but more often the result of a random genetic accident.The results from the Autism Consortium study, released onlineWednesday by the New England Journal of Medicine, confirm those ofsmaller studies by U.S. and Canadian research groups in the pastyear. The consortium verified its findings by checking two other DNAdatabases."They really did nail it," said Dr. Zimmerman, director of theKennedy Krieger Institute's Center for Autism & Related Disorders inBaltimore, who was not involved in the research.He predicted children newly diagnosed with autism or otherdevelopmental disorders now will be tested for this defect onchromosome 16 and that studies of many more DNA samples may revealother autism-related gene variations.Already, the findings are starting to be used to give some parentslong-sought answers to burning questions: What caused autism in theirchild and how likely is it that any future children also would haveautism, long known to run in families?"We've provided very compelling evidence that this particular smallstretch of the genome provides an important clue to the biologicalroots of autism," said lead researcher Mark J. Daly, an assistantgenetics professor at Harvard Medical School and an investigator forthe consortium, which includes researchers from 14 Boston-areauniversities and medical centers.When the biological pathways involved are figured out, scientists cantry to design drugs to target chemicals in the brain to treat autism,said Geraldine Dawson, chief science officer of the advocacy groupAutism Speaks."I think chromosome 16 is now going to be a hotbed for autismresearch," said Lehner, head of the genomic research branch atthe National Institute of Mental Health. "It gives us a very importantlead."Another study researcher, Dr. of Children's HospitalBoston, said the chromosome 16 variations increased the risk ofautism a hundredfold. But he said the disorder must be due to acombination of genetic variations since there were cases of peoplewho had the defect but didn't have autism.Autism, a complex, poorly understood disorder, is characterized byrepetitive behaviors and poor social interaction and communicationskills. Research has mainly centered on genetic causes, and onwhether it could be caused by the mercury-based preservative onceused in childhood vaccines, which has been repeatedly discounted.The number of children diagnosed with autism has risen in recentyears to as many as one in 150 American children, but experts areunsure whether its prevalence really is increasing or the trend isdue to a broader definition of autism.For their study, consortium researchers scanned all 46 chromosomesfrom DNA samples from 1,441 children with autism or relateddisorders. They also scanned DNA from most of their parents and 2,800other people, none known to have autism.The researchers found a 25-gene segment of chromosome 16 was missingin five children with autism; none of their parents had the deletion.That shows that in some cases the genetic glitch is not inherited fromthe parents, but instead due to a random accident while an egg orsperm is being formed.Another seven autistic children had a chromosome 16 duplication, butall but one had parents with the same duplication.The researchers confirmed their findings by looking at DNA databasesfrom Children's Hospital Boston and Iceland. The same defect wasfound in 1 percent of those with autism or related disorders. It wasfound in just seven of about 19,000 Iceland samples from peoplewithout the disorder.

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[Guest guest]

So here is my question is chromosome #16 a vulnerable one? KH**************Start the year off right. Easy ways to stay in shape. http://body.aol.com/fitness/winter-exercise?NCID=aolcmp00300000002489

[Guest guest]

1 % may have it the news story tonight stated with

In EOHarm , kahybl@... wrote:

>

> So here is my question is chromosome #16 a vulnerable one? KH

>

>

> **************

>

> Start the year off right. Easy ways to stay in shape.

>

> http://body.aol.com/fitness/winter-exercise?NCID=aolcmp00300000002489

>

[Guest guest]

Am I reading this right? Is it saying the conclusion to this study

is based on the fact that 5 children with autism are missing a gene

segment of chromosome 16? Tell me more than 5 kids brought them to

this conclusion that is plastered on my local and national news

stations. They called it " a major breakthrough in autism research " .

Yeah right..

Chrissy

>

>

> Study: Rare gene change linked to autism

> By LINDA A. JOHNSON

> ASSOCIATED PRESS WRITER

> http://seattlepi.nwsource.com/health/1500ap_autism_gene.html

>

> A rare genetic variation dramatically raises the risk of

developing

> autism, a large study showed, opening new research targets for

better

> understanding the disorder and for treating it.

>

> Research into the causes of autism has focused on genetic causes

> because so many families have multiple children with the disorder.

> Thus far, only about 10 percent of autism cases have a known

genetic

> cause. Boston-area researchers estimate the gene glitch they've

> identified accounts for another 1 percent of cases.

>

> They found a segment of a chromosome which has genes linked to

brain

> development and various developmental disorders was either

missing or

> duplicated far more often in autistic people. The defect was

inherited

> in some cases, but more often the result of a random genetic

accident.

>

> The results from the Autism Consortium study, released online

> Wednesday by the New England Journal of Medicine, confirm those of

> smaller studies by U.S. and Canadian research groups in the past

> year. The consortium verified its findings by checking two other

DNA

> databases.

>

> " They really did nail it, " said Dr. Zimmerman, director of

the

> Kennedy Krieger Institute's Center for Autism & Related Disorders

in

> Baltimore, who was not involved in the research.

>

> He predicted children newly diagnosed with autism or other

> developmental disorders now will be tested for this defect on

> chromosome 16 and that studies of many more DNA samples may reveal

> other autism-related gene variations.

>

> Already, the findings are starting to be used to give some parents

> long-sought answers to burning questions: What caused autism in

their

> child and how likely is it that any future children also would

have

> autism, long known to run in families?

>

> " We've provided very compelling evidence that this particular

small

> stretch of the genome provides an important clue to the biological

> roots of autism, " said lead researcher Mark J. Daly, an assistant

> genetics professor at Harvard Medical School and an investigator

for

> the consortium, which includes researchers from 14 Boston-area

> universities and medical centers.

>

> When the biological pathways involved are figured out, scientists

can

> try to design drugs to target chemicals in the brain to treat

autism,

> said Geraldine Dawson, chief science officer of the advocacy group

> Autism Speaks.

>

> " I think chromosome 16 is now going to be a hotbed for autism

> research, " said Lehner, head of the genomic research

branch at

> the National Institute of Mental Health. " It gives us a very

important

> lead. "

>

> Another study researcher, Dr. of Children's Hospital

> Boston, said the chromosome 16 variations increased the risk of

> autism a hundredfold. But he said the disorder must be due to a

> combination of genetic variations since there were cases of people

> who had the defect but didn't have autism.

>

> Autism, a complex, poorly understood disorder, is characterized by

> repetitive behaviors and poor social interaction and communication

> skills. Research has mainly centered on genetic causes, and on

> whether it could be caused by the mercury-based preservative once

> used in childhood vaccines, which has been repeatedly discounted.

>

> The number of children diagnosed with autism has risen in recent

> years to as many as one in 150 American children, but experts are

> unsure whether its prevalence really is increasing or the trend is

> due to a broader definition of autism.

>

> For their study, consortium researchers scanned all 46 chromosomes

> from DNA samples from 1,441 children with autism or related

> disorders. They also scanned DNA from most of their parents and

2,800

> other people, none known to have autism.

>

> The researchers found a 25-gene segment of chromosome 16 was

missing

> in five children with autism; none of their parents had the

deletion.

> That shows that in some cases the genetic glitch is not inherited

from

> the parents, but instead due to a random accident while an egg or

> sperm is being formed.

>

> Another seven autistic children had a chromosome 16 duplication,

but

> all but one had parents with the same duplication.

>

> The researchers confirmed their findings by looking at DNA

databases

> from Children's Hospital Boston and Iceland. The same defect was

> found in 1 percent of those with autism or related disorders. It

was

> found in just seven of about 19,000 Iceland samples from people

> without the disorder.

>

>

>

>

>

>

>

>

>

> **************Start the year off right. Easy ways to stay in

shape.

> http://body.aol.com/fitness/winter-exercise?

NCID=aolcmp00300000002489

>

[Guest guest]

I don't know if chromosome 16 is a vulnerable one, but it's certainly

a drug-able one! " When the biological pathways involved are figured

out, scientists can try to design drugs to target chemicals in the

brain to treat autism, said Geraldine Dawson, chief science officer

of the advocacy group Autism Speaks " .

This was the same precise quote used for the AP article.

Pharmacogenetics, man. Where's an unembedded geneticist when you need

one for quick rebuttal? Can someone send this to one of our experts?

>

>

> Study: Rare gene change linked to autism

> By LINDA A. JOHNSON

> ASSOCIATED PRESS WRITER

> http://seattlepi.nwsource.com/health/1500ap_autism_gene.html

>

> A rare genetic variation dramatically raises the risk of developing

> autism, a large study showed, opening new research targets for

better

> understanding the disorder and for treating it.

>

> Research into the causes of autism has focused on genetic causes

> because so many families have multiple children with the disorder.

> Thus far, only about 10 percent of autism cases have a known

genetic

> cause. Boston-area researchers estimate the gene glitch they've

> identified accounts for another 1 percent of cases.

>

> They found a segment of a chromosome which has genes linked to

brain

> development and various developmental disorders was either missing

or

> duplicated far more often in autistic people. The defect was

inherited

> in some cases, but more often the result of a random genetic

accident.

>

> The results from the Autism Consortium study, released online

> Wednesday by the New England Journal of Medicine, confirm those of

> smaller studies by U.S. and Canadian research groups in the past

> year. The consortium verified its findings by checking two other

DNA

> databases.

>

> " They really did nail it, " said Dr. Zimmerman, director of

the

> Kennedy Krieger Institute's Center for Autism & Related Disorders

in

> Baltimore, who was not involved in the research.

>

> He predicted children newly diagnosed with autism or other

> developmental disorders now will be tested for this defect on

> chromosome 16 and that studies of many more DNA samples may reveal

> other autism-related gene variations.

>

> Already, the findings are starting to be used to give some parents

> long-sought answers to burning questions: What caused autism in

their

> child and how likely is it that any future children also would have

> autism, long known to run in families?

>

> " We've provided very compelling evidence that this particular small

> stretch of the genome provides an important clue to the biological

> roots of autism, " said lead researcher Mark J. Daly, an assistant

> genetics professor at Harvard Medical School and an investigator

for

> the consortium, which includes researchers from 14 Boston-area

> universities and medical centers.

>

> When the biological pathways involved are figured out, scientists

can

> try to design drugs to target chemicals in the brain to treat

autism,

> said Geraldine Dawson, chief science officer of the advocacy group

> Autism Speaks.

>

> " I think chromosome 16 is now going to be a hotbed for autism

> research, " said Lehner, head of the genomic research branch

at

> the National Institute of Mental Health. " It gives us a very

important

> lead. "

>

> Another study researcher, Dr. of Children's Hospital

> Boston, said the chromosome 16 variations increased the risk of

> autism a hundredfold. But he said the disorder must be due to a

> combination of genetic variations since there were cases of people

> who had the defect but didn't have autism.

>

> Autism, a complex, poorly understood disorder, is characterized by

> repetitive behaviors and poor social interaction and communication

> skills. Research has mainly centered on genetic causes, and on

> whether it could be caused by the mercury-based preservative once

> used in childhood vaccines, which has been repeatedly discounted.

>

> The number of children diagnosed with autism has risen in recent

> years to as many as one in 150 American children, but experts are

> unsure whether its prevalence really is increasing or the trend is

> due to a broader definition of autism.

>

> For their study, consortium researchers scanned all 46 chromosomes

> from DNA samples from 1,441 children with autism or related

> disorders. They also scanned DNA from most of their parents and

2,800

> other people, none known to have autism.

>

> The researchers found a 25-gene segment of chromosome 16 was

missing

> in five children with autism; none of their parents had the

deletion.

> That shows that in some cases the genetic glitch is not inherited

from

> the parents, but instead due to a random accident while an egg or

> sperm is being formed.

>

> Another seven autistic children had a chromosome 16 duplication,

but

> all but one had parents with the same duplication.

>

> The researchers confirmed their findings by looking at DNA

databases

> from Children's Hospital Boston and Iceland. The same defect was

> found in 1 percent of those with autism or related disorders. It

was

> found in just seven of about 19,000 Iceland samples from people

> without the disorder.

>

>

>

>

>

>

>

>

>

> **************Start the year off right. Easy ways to stay in

shape.

> http://body.aol.com/fitness/winter-exercise?

NCID=aolcmp00300000002489

>

[Guest guest]

From what I gathered, you are horribly mistaken. It was about 20 kids

out of 20,000. ROFL!!! Yeah, we can't have thousands of parent saying

their kids regressed after vaccines and it be any sort of a hint, but

20 kids out of 20,000, now there's some proof!!!

>

> Am I reading this right? Is it saying the conclusion to this study

> is based on the fact that 5 children with autism are missing a gene

> segment of chromosome 16? Tell me more than 5 kids brought them to

> this conclusion that is plastered on my local and national news

> stations. They called it " a major breakthrough in autism research " .

> Yeah right..

> Chrissy

>

[Guest guest]

Yeah,

so let’s get this straight. Even if ‘they’ are right and

vaccines are not responsible for the huge epidemic of autism (but may

contribute to ‘some’ cases in a subset of kids), WTF! We can spend

millions of dollars studying gene mutations that are seen in 1% of kids with

autism, but they won’t even study their perceived small percent of kids

where vaccines may be a factor?

Even if its only 1% of kids that become

autistic from vaccines, they should be studied, its freakin preventable.

Becky

Re: Study: Rare

gene change linked to autism

From what I gathered, you are horribly mistaken. It

was about 20 kids

out of 20,000. ROFL!!! Yeah, we can't have thousands of parent saying

their kids regressed after vaccines and it be any sort of a hint, but

20 kids out of 20,000, now there's some proof!!!

>

> Am I reading this right? Is it saying the conclusion to this study

> is based on the fact that 5 children with autism are missing a gene

> segment of chromosome 16? Tell me more than 5 kids brought them to

> this conclusion that is plastered on my local and national news

> stations. They called it " a major breakthrough in autism

research " .

> Yeah right..

> Chrissy

>

[Guest guest]

(Warning: I'm kinda cranky today)

Here's my personal favorite line:

" A study published online Wednesday in the New England Journal of

Medicine identified a stretch of 25 genes that were either missing or

duplicated in 10 children who were diagnosed with autism or a similar

developmental disorder. "

10 CHILDREN?

You know, if they want parents to shut up about thimerosal, mercury,

and vaccines in general -- THEN FUND A GOOD STUDY WITHOUT

PHARMACEUTICAL INVOLVEMENT WITH MORE THAN 1000 KIDS. Hello? Is this

that difficult? If they *so* want to shut us up, then put your money

where your mouth is (clearly your head is up you a*# & $) and do the

study that we all want to have done.

I'm sure they would have AMPLE SUBJECTS if they did the study, and did

it right. I'd volunteer both of my kids. Wouldn't you?

W.

>

> Yeah, so let's get this straight. Even if 'they' are right and vaccines

> are not responsible for the huge epidemic of autism (but may contribute

> to 'some' cases in a subset of kids), WTF! We can spend millions of

> dollars studying gene mutations that are seen in 1% of kids with autism,

> but they won't even study their perceived small percent of kids where

> vaccines may be a factor?

[Guest guest]

-

Gene delation by Hep-b Evidence for increased in vitro recombination

with insertion of human hepatitis B virus DNA.

O Hino, S Tabata, and Y Hotta

Department of Pathology, Cancer Institute, Tokyo, Japan.

This article has been cited by other articles in PMC.

AbstractChromosomal translocation, deletion, and

inversion/duplication directly linked to hepatitis B virus (HBV) DNA

integration occur frequently in host DNA of human hepatocellular

carcinomas. To test the possible recombinogenic effect of HBV DNA, we

have utilized an in vitro recombination assay. Fragments containing

the region spanning DR1, which is believed to be the origin of viral

replication and a preferred site in the viral genome for integration,

increased the recombination events reproducibly in the presence of

extracts from actively dividing cells (e.g., hepatocellular

carcinoma) but not resting cells (e.g., normal liver). Moreover, in

these extracts we have found a protein(s) that specifically binds to

these HBV DNA fragments. These results support the notion that in

some instances integrated HBV DNAs cause further genomic instability,

possibly involving specific cellular protein(s). The fact that

extracts from nondividing, normal liver did not increase

recombination events suggests that genomic instability depends upon

active cellular growth, a feature more commonly found subsequent to

HBV-induced hepatocellular injury than in healthy liver. Our results

offer an explanation for the high incidence of liver cancer that

accompanies chronic hepatitis and add HBV to the list of agents that

can cause genetic recombination.Full textFull text is available as a

scanned copy of the original print version. Get a printable copy (PDF

file) of the complete article (935K), or click on a page image below

to browse page by page. Links to PubMed are also available for

Selected References.

-- In EOHarm , kahybl@... wrote:

>

> So here is my question is chromosome #16 a vulnerable one? KH

>

>

> **************

>

> Start the year off right. Easy ways to stay in shape.

>

> http://body.aol.com/fitness/winter-exercise?

NCID=aolcmp00300000002489

>

[Guest guest]

If you click on the New England Journal article that is behind the PR

push about the " new gene finding " associated with autism, you will

see that this study used families from the AGRE, Autism Genetic

Resource Exchange. AKA Autism Speaks!!!!! I don't have time to look

right now, but can anyone do a little research and see if the study

itself was from an AS grant?

Here's the link to the entire NEJM article:

http://content.nejm.org/cgi/content/full/NEJMoa075974v1