Researchers identify possible autism-causing genes

By Deborah Rafferty, Staff Writer

The fight against autism just got brighter, now that doctors know exactly where a human being’s makeup is most vulnerable to developing the disorder.

Researchers in the Utah division of the Autism Genome Project, which has 50 centers across the United States and Europe, collaborated to identify the human gene that might increase the chances of developing autism. It’s a discovery that puts doctors around the world a step closer to an effective treatment, but the brains behind the science say that’s still a long ways away.

“Every time someone finds a little bit of information, it is chipping away at the iceberg,” said Hilary Coon, the study’s co-author and a professor of psychiatry at the U. “It is a slow process. The brain is a very complex organ.”

The two studies, published April 28 in Nature, involved 150 Utah families who had a single occurrence of the disorder. The first study identified the 130 genes that scientists believe cause autism. Both people who do have the condition and those who don’t share these genes, but those with autism have mutations in those 130. The genes are located in the front of the brain, the region essential to language and judgment, and the variations disrupt communication within the human brain, Coon said.

In the second study, researchers narrowed 130 genes potentially responsible for autism down to one. The researchers found a rare gene that only people with autism have. They theorize that it may be responsible for increasing the susceptibility to developing the disorder.

The joint research project was one of the largest genetic studies in modern history, Coon said. Both studies were considered breakthroughs in a complicated disorder. This discovery has helped doctors become closer to solving the mystery of what causes autism.

Because the genes associated with neurons have been replicated incorrectly in autism cases, they are not able to communicate effectively with other parts of the brain, Coon said. Since these faulty genes are located in the part of the brain that affect how language is perceived, the researchers speculated this could be the reason patients with autism have difficulty with understanding language.

The relationship between the two genes has given researchers further evidence the disorder, to an extent, is caused by abnormal connections within the brain.

“It gives the hope that we will eventually understand the disorder,” said William McMahon, a co-author and chair of the U pyschiatry department. “The design of our study needs to change now. There needs to be more done on a cellular level.”

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