Researchers find common genetic variations in autistic people
Researchers find common genetic variations in autistic people
April 29th, 2009 by Valerie ChavezFindings
show that many autistic people have a deviation in a portion of their
DNA that affects the way brain cells connect with one another. The
discovery may lead to treatments.
show that many autistic people have a deviation in a portion of their
DNA that affects the way brain cells connect with one another. The
discovery may lead to treatments.
Reporting
from Chicago -- Researchers have found that many people with autism
share common genetic variations, a discovery that may improve diagnosis
and offers the promise of developing treatments for the frustratingly
mysterious disorder.
Their findings, published in the journal Nature, compared the genomes
of thousands of autistic people with those of thousands of people
without the disorder -- a massive task that new technology has only
recently made possible. The genome is the complex system of DNA coding
that builds and runs the human body.
from Chicago -- Researchers have found that many people with autism
share common genetic variations, a discovery that may improve diagnosis
and offers the promise of developing treatments for the frustratingly
mysterious disorder.
Their findings, published in the journal Nature, compared the genomes
of thousands of autistic people with those of thousands of people
without the disorder -- a massive task that new technology has only
recently made possible. The genome is the complex system of DNA coding
that builds and runs the human body.
The review showed that most autistic people
examined have a genetic variation in a portion of their DNA that
affects the way brain cells connect with one another. Scientists also
reported a link between autism and small "mistakes" in another DNA
segment involved with cell communication. Both reports add weight to
the idea that autism is related to problems with the way brain cells
connect.
"It is very exciting," said study leader Hakon
Hakonarson, director of the Center for Applied Genomics at Children's
Hospital of Philadelphia. "It opens up the opportunity someday for new
interventions to fix the bad consequences this variant has on brain
function and development."
A disorder marked by impaired
language and ability to interact, autism affects 1 in 150 children in
the U.S., according to the Centers for Disease Control and Prevention.
examined have a genetic variation in a portion of their DNA that
affects the way brain cells connect with one another. Scientists also
reported a link between autism and small "mistakes" in another DNA
segment involved with cell communication. Both reports add weight to
the idea that autism is related to problems with the way brain cells
connect.
"It is very exciting," said study leader Hakon
Hakonarson, director of the Center for Applied Genomics at Children's
Hospital of Philadelphia. "It opens up the opportunity someday for new
interventions to fix the bad consequences this variant has on brain
function and development."
A disorder marked by impaired
language and ability to interact, autism affects 1 in 150 children in
the U.S., according to the Centers for Disease Control and Prevention.
Up to now, the medical community could say very
little about what causes autism or how to treat it. The lack of
scientific knowledge about autism has led to a proliferation of
pseudoscientific explanations for the disorder, as well as unproven
treatments.
Though this is not the first time geneticists have
found a link between autism and DNA, past discoveries have involved
extremely rare instances in which a tiny bit of DNA was missing or
there were too many copies of another bit. Those differences were
helpful in understanding how trouble in those regions of the genome can
lead to autistic symptoms, but they accounted for only a tiny fraction
of autism cases.
By contrast, the new research is "a big step,"
said Thomas Lehner, chief of the Genomics Research Branch at the
National Institute of Mental Health.
The first of two Nature
studies released Tuesday found that 65% of autistic participants shared
a variation between cadherin 10 and cadherin 9, a region of the genome
that controls cell-adhesion molecules in the brain. Those molecules
help brain cells connect, and autism researchers have long suspected
that trouble there may be linked to the disorder. The second study
suggested a link between autism and an excess of genetic material
associated with ubiquitin, a protein involved with connections between
cells.
The reports also do not explain the rising numbers of
diagnosed cases of autism. That increase may be occurring because of
heightened awareness, because the definition of autism has expanded,
because of some environmental factor, some combination of these factors
or something else entirely.
LINK: http://www.latimes.com/features/health/la-na-autism29-2009apr29,0,4441598.story
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