Re: Study: Rare Gene Change Linked to Autism

[Guest guest]

Hey group FYI

I have not put much effort in responding lately to these inquires because lately

I am just over the Autism diagnosis and I am learning to live with my son the

way he is. (No meds) Well the point is my son was and is in a study for the NIH

(National Institue of Health) and he has a rare genetic disorder besides the

Autism which UM took interest in but because of funding the Dr took the kids who

had Autism 1st hoping the NIH would give him more money for his studies.

Well the results were not shocking to me. My son has an aunt who has Autism and

I always knew in my heart his genes had something to play with it. The research

group found four genes where they have seen children who are and were more prone

to having autism. Four types not just 1 like I saw in the news last night. The

info was told to me from my son's results at UM and I don't have yet a copy of

his results. Though a great deal of us as parents stress beyond belief about the

diagnosis, many of us can't cope because of not knowing the why and where? Now I

just want to know the treatment plan. Not the meds to sedate and cover the

symptoms but to cure it. I have hope in my heart the cure will come in this or

next decade. When my son's results come in, I always like to give a copy to my

son's doctors at Dan Marino. If any one else would like to personally talk to me

about this please do it off the list because I respect everyone's point of view

on their own child and I just wanted to share my son's, not start a fuse like I

have seen in the past with these topics.

Thanks

Aka enzo's mom

Sent via BlackBerry by AT & T

Study: Rare Gene Change Linked to Autism

Study: Rare Gene Change Linked to Autism

Wednesday, 9-Jan-2008 5:30PM EST     

Story from AP / LINDA A. JOHNSON

Copyright 2008 by The Associated Press (via ClariNet <http://www.clari.net/> )

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Associated Press/AP Online

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.

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On the Net: http://www.nejm. <http://www.nejm.org/> org

http://www.autismsp <http://www.autismspeaks.org/> eaks.org

http://www.autismco <http://www.autismconsortium.org/> nsortium.org