Researchers discover a gene underlying autism

June 26, 2008

from the ASSOCIATED PRESS

WASHINGTON, Nov. 29,2000 - Scientists have long theorized that

about 15 different genes play a role in who is born with the severe

brain disorder autism - and now they've finally found one of those

genes. A STUDY OF 57 autism patients found that 40 percent carry a

mutated version of the HOXA1 gene, which plays a crucial role in early

brain development, University of Rochester scientists reported Monday.

Children need to inherit just one copy of the mutated gene from one

parent to have autism. In fact, scientists found only one patient, a

very severe case, who inherited a copy of the bad gene from both

parents, suggesting that when that happens the fetus usually dies,

said lead researcher Rodier, who heads the university's

National Institutes of Health-funded autism research center. The NIH

called the finding a significant step in understanding what

predisposes people to developing autism. More than 400,000 Americans

have the brain disorder, characterized by profound social withdrawal,

repetitive behavior and inability to communicate. Research suggests

it's caused when something goes wrong during critical fetal brain

development - a theory the gene discovery, in the December issue of

the journal Teratology, supports .

Why don't parents who harbor the defective gene have autism

themselves? Some do have very subtle symptoms, suggesting that

something else, perhaps some other gene, keeps the autism-related gene

in check, Rodier said. HOXA1 is one of a family of genes vital to

early embryo development because genes in the group turn on or off

other genes. HOXA1's specific role is in brain development. Mice who

lack this gene have brainstem damage, malformed ears and other classic

signs of autism - one reason Rodier's research team decided to check

the gene's role in people. It's not the kind of gene that could ever

be fixed with gene therapy. But the discovery may help doctors unravel

just how the brain changes when HOXA1 is abnormal, Rodier said. " If

you figure out the brain changes, you're on your way, we hope, to

finding better treatments, " she said.

Reprinted from Msnbc

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