New
Method Finds Gene Cause of Some Autism -Study
Fri February 7, 2003 03:10 PM ET
By Maggie Fox, Health and Science Correspondent
WASHINGTON (Reuters) - Using a new method that separates patients by
their symptoms, U.S. researchers said on Friday they found a new genetic
link to autism and suggested the approach might be used to pinpoint the
genetic causes of other diseases as well.
The research also suggests that several different causes may be behind
autism, a disturbing and increasingly common behavioral disorder that
baffles parents and doctors alike.
The new study, published in the American Journal of Human Genetics, links
certain types of autism to a place on chromosome 15 linked with several
other disorders.
It had been suspected in autism for some time, but researchers had been
unable to show that people with certain versions of genes on chromosome 15
were more likely to have autism.
The team at Duke University Medical Center in North Carolina and at the
University of South Carolina decided to separate out autistic children by
their actual behaviors.
Autism, which affects one in 1,000 children in the United States, is
defined by a wide range of symptoms, many of which are just an exaggeration
of normal childhood behavior.
"All kids with autism by definition have some form of repetitive
behavior," Duke child psychologist Michael Cuccaro, who helped lead the
study, said in a telephone interview.
"One kind of a classical autism feature ... may be a child doing
something with his hands and arms. He might be flapping them, might be
waving them in front of the eyes."
Cuccaro's team focused on children with other, more prominent symptoms.
"These are kids who if you changed the furniture in the room, they become
extremely upset and have difficulty with that. If they normally went to bed
at 7:30 and before they did that they took a bath and put pajamas on, if you
changed that they would have great difficulty with that."
SIMILAR MUTATIONS
When those particular children and teen-agers were separated out, the
researchers were able to find a series of mutations on chromosome 15 that
seemed to be similar, said Dr. Margaret Pericak-Vance, a Duke geneticist who
led the study.
They used a statistical trick, but they double-checked and the
association was clear, Pericak-Vance said.
Both she and Cuccaro say that supports what many researchers have said --
that autism is a complex disease and may not be caused by the same thing in
every patient.
"It's like any complex disease -- there are a number of underlying causes
for it and they manifest similarly," she said. "The next thing is to look at
possible interactions between the genes in this region. This region seems to
be involved in a lot of different disorders."
Pericak-Vance said her team was already trying the new approach to
separate out different kinds of Alzheimer's disease. Alzheimer's has
different forms -- some are seen earlier in life than others, and Pericak-Vance
hopes the method might find a genetic difference among them.
The gene on chromosome 15 that seems to be affected in the autism
patients controls a neurotransmitter called GABA. That message-carrying
chemical acts to turn off brain cells.
As the behavior seen in these children seems to be an extreme version of
what every child does at one time or another, it could be that these
particular symptoms are caused by the brain's failure to turn off a signal.
In other words, it does not know when to stop -- thus the obsessive
behavior.
The research did little to answer questions about whether environmental
causes may be behind autism, Cuccaro said. One group of parents believes
childhood vaccines may be a cause, although several studies aimed at finding
out if that is true have shown no link.
"What we are coming to find about vaccines now is that there is not a lot
of support for a link between the vaccine and autism," said Cuccaro.
The study may help scientists find a way to treat autism, which is now
incurable. If a precise genetic cause of one behavior is found, it might be
possible to design a drug that will correct it.
That would not be a cure -- autism is too complex for that -- but it may
be possible to moderate some of the symptoms, Cuccaro said.
|