Posted by Sarah
on December 13, 2000 at 02:56:20:
In Reply to: A very interesting article on an Autism gene posted by Ellena on November 28, 2000 at 15:12:28:
: Nov. 27, 2000 (Washington) -- 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% 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 Patricia Rodier, who heads the university's National Institutes
: of Health (NIH)-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 that the gene discovery, which was published 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.