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Researchers Disover Autism Gene
(AP) - Scientists have long theorized that about 16 different genes play 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 first happens the fetus usually dies, said lead researcher Patircia
Rodier, who heads the university's National Institutes of Health - funded
autism research center.
The NIH called the finding a signigicant 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.
HOXA1 is one of a family of genese 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.
On the Net:
NIH autism site: http://www.nichd.nih.gov/autism
Teratology Society site with link to study abstract: http://www.teratology.org/
SEE Page 4 FOR ANOTHER
AUTISM GENE ARTICLE