Hebrew U identifies genetic mutation that may aid autism therapy efforts
The research found that the mutation led to hyper-social behavior and learning disabilities and had impacts on physical development.
By Jerusalem Post Staff, January 11. 2021
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The secret to healing what ails you lies within your own DNA. (photo credit: DREAMSTIME) |
Research by the Hebrew University of Jerusalem and the Center for Autism
Research has found that genes associated with autism tend to be related
to the cortex, the striatum and the cerebellum in the brain.
The team behind the study, led by Prof. Sagiv Shifman from the Life Sciences Institute at the Hebrew University,
is hopeful that findings concerning the cerebellum's contribution to
the development of social and cognitive functions could lead to a better
understanding of the relation between the cerebellum and autism and
could even lead to new therapies.
The study tested one of the most prominent genes associated with
autism, Pogz. Shifman chose the gene because prior research found that
it was linked to developmental disorders and overly friendly behavior in
some patients on the autism spectrum.
The
team, including Prof. Yosef Yarom from the Edmond & Lily Safra
Center for Brain Sciences at Hebrew University and other laboratories
around the world, investigated how a mutation in the Pogz gene impacted
brain development in mice, with a focus on the effect on the functioning
of the cerebellum.
The
research, published in Nature Communications, found that the mutation
led to hyper-social behavior and learning disabilities and had impacts
on physical development. The mutation also affected the proliferation of
cells in the brain and inhibited the production of new neurons. The
researchers believe that this may be why some children with the mutation
have smaller than average heads.
Yarom
believes that this research could be central to developing drugs to
directly change the neural processes in the cerebellum. Previous
research by Yarom found that specific chemical agents could change the
active functioning of the cerebellum and ongoing research will focus on
whether similar approaches could cause lab mice to change their behavior
and reverse the effects related to the mutation.
"Our
work with this specific gene that we know is connected to autism and
significantly impacts on the functioning of the brain provide us with
considerable hope that we will be able to develop medicines to assist
children with autism," said Shifman.
“Enhanced understanding of the neurological processes behind autism opens up hope-filled possibilities for new treatments," added Yarom.
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| This is amazing research & if it leads for some sort of autism therapy that is outstanding! |
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