have found genetic variances linked to autism and recently they have
observed in new research how these variants actually rewrite the brain.
Many gene variants have been linked to autism, but how do these subtle changes alter the brain, and ultimately, behavior?
“This is a
key piece of the puzzle we’ve been searching for,” said Dr. Daniel
Geschwind, co-principal investigator and a professor of neurology and
psychiatry. “Now we can begin to unravel the mystery of how genes
rearrange the brain’s circuitry not only in autism, but in many related
neurological disorders.”
To
make the assessment, the team of researchers examined the differences in
brain connectivity and function that comes about from two forms of the
CNTNAP2 gene. This is the gene that increases autism risk.
make the assessment, the team of researchers examined the differences in
brain connectivity and function that comes about from two forms of the
CNTNAP2 gene. This is the gene that increases autism risk.
“In
children who carry the risk gene, the front of the brain appears to
talk mostly with itself,” explained first author Ashley Scott-Van
Zeeland, now a Dickinson Research Fellow at Scripps Translational
Science Institute. “It doesn’t communicate as much with other parts of
the brain and lacks long-range connections to the back of the brain.”
children who carry the risk gene, the front of the brain appears to
talk mostly with itself,” explained first author Ashley Scott-Van
Zeeland, now a Dickinson Research Fellow at Scripps Translational
Science Institute. “It doesn’t communicate as much with other parts of
the brain and lacks long-range connections to the back of the brain.”
Researchers
found communication pathways in the frontal lobe linked more to the
left side of the brain with non autistic children. With those children
having the risk variant, communications pathways in the front lobe
connected more broadly to both sides of the brain. It is an unusual
symmetry in comparison to children without autism.
found communication pathways in the frontal lobe linked more to the
left side of the brain with non autistic children. With those children
having the risk variant, communications pathways in the front lobe
connected more broadly to both sides of the brain. It is an unusual
symmetry in comparison to children without autism.
Scientists believe this rewiring difference may explain the reason for autistic individuals to have delayed speech.
“We
saw that if you had the risk variant, your brain showed disrupted
activation patterns whether you were diagnosed on the autism spectrum or
not,” explained Susan Bookheimer, co-principal investigatora professor
of psychiatry who holds the Joaquin Fuster Chair in Cognitive
Neurosciences. “We suspect that CNTNAP2 plays an important role in
wiring neurons at the front of the brain, and that the risk variant
interferes with that process.”
saw that if you had the risk variant, your brain showed disrupted
activation patterns whether you were diagnosed on the autism spectrum or
not,” explained Susan Bookheimer, co-principal investigatora professor
of psychiatry who holds the Joaquin Fuster Chair in Cognitive
Neurosciences. “We suspect that CNTNAP2 plays an important role in
wiring neurons at the front of the brain, and that the risk variant
interferes with that process.”
By
finding out how genes, the brain and behavior relate, scientists may be
able to detect autism earlier and help develop interventions to
strengthen connections between the front lobe and left side of the
brain.
finding out how genes, the brain and behavior relate, scientists may be
able to detect autism earlier and help develop interventions to
strengthen connections between the front lobe and left side of the
brain.
“If
we determine that the CNTNAP2 variant is a consistent predictor of
language difficulties,” said Scott-Van Zeeland, “we could begin to
design targeted therapies to help rebalance the brain and move it toward
a path of more normal development.”
we determine that the CNTNAP2 variant is a consistent predictor of
language difficulties,” said Scott-Van Zeeland, “we could begin to
design targeted therapies to help rebalance the brain and move it toward
a path of more normal development.”
Pre and post interventions could be examined with the use of this research, it was explained.
The gene variant alone is not responsible, the authors underline, but it does increase the risk.
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