Scientists finding genes related to autism

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Scientists finding genes related to autism

Originally published: December 5, 2010 6:36 PM

Updated: December 5, 2010 8:21 PM

By DELTHIA RICKS delthia.ricks@...

Scientists combing the human genome in recent years for autism-related DNA have

uncovered dozens of genes related to the disorder and note that countless more

genes have yet to be found.

New gene discoveries announced this year - including one just last week - are

helping to shape a narrative that autism spectrum disorders are largely genetic

conditions.

" A consensus is emerging that many of the individual genes associated with

autism underlie a number of other brain disorders, " said Dr. ph Buxbaum,

director of the Seaver Autism Center at Mount Sinai School of Medicine in

Manhattan, which is participating in the Autism Genome Project.

Genes related to autism, he said, have been found near those related to other

complex brain conditions - attention-deficit/hyperactivity, obsessive compulsive

and bipolar disorders.

Buxbaum was among the scientists who helped uncover six DNA flaws linked to

autism spectrum disorders last summer. Examining DNA from 1,000 children with

autism and 1,300 without the condition, project scientists identified clusters

of mutations that were nearly 20 percent more common in children with autism.

" As we continue to uncover genetic mutations that can cause autism, we are

gaining further insights that will lead to earlier diagnosis and better

treatments, " said Buxbaum, who also receives research support from the Simons

Foundation. The multimillion-dollar nonprofit was founded by Long Island

billionaire Simons, whose daughter has Asperger syndrome, an autism

spectrum disorder.

But genome project investigations are not the only autism-related gene searches

under way.

" By no means is that the end of the story, " said Dr. Anil Malhotra of the

Feinstein Institute for Medical Research in Manhasset, who earlier this year

isolated DNA that, when mutated, appears to cause schizophrenia in some people

but autism in others.

Malhotra said as researchers continue to study the genetics of all complex

neurobiological conditions, the work eventually will help explain why so many

traits are shared from one condition to the next.

Another genetic question under study is why autism affects boys more frequently

than girls. That answer could come within the next several months, said Dr.

Ronemus of Cold Spring Harbor Laboratory, where scientists are trying to

unravel the disparity.

Yet, even as compelling DNA evidence emerges, experts say the findings will

probably not extinguish the fiery debate about cause and effect. " Autism is a

very controversial subject, especially among parent groups, " said Dr. Eli

Hatchwell, geneticist and founder of Population Diagnostics, a biotechnology

firm in Melville and Oxford, England.

Hatchwell and his team are working on gene-based diagnostics for autism.

He predicts genetic research will ultimately define autism as at least 100

distinct conditions, each caused by their own mutations.

" There may be a small number of individuals who are reacting badly to something

in the environment, but I don't believe that to be the case for everyone, "

Hatchwell said. " Autism is 90 percent genetic in my opinion. "