Are autism drugs on the horizon?

January 11, 2021

Recent years have provided substantial research displaying the effect of genetic mu-tations on the development of autism and other neurodevelopmental disorders. Based on those studies, researchers have focused attention on the commonalities be-hind those mutations and how they impact on the functioning of the brain. A study conducted by Professor Sagiv Shifman from the Life Sciences Institute at the He-brew University of Jerusalem and the Center for Autism Research has found that genes associated with autism tend to be involved in the regulation of other genes and to operate preferentially in three areas of the brain; the cortex, the striatum, and the cerebellum.

The cerebellum is responsible for motor function and recent findings have indicated that it also contributes to the development of many social and cognitive functions. Based on these findings, the research team is hopeful this can lead to a better under-standing of the relation between the cerebellum and autism and even lead to new therapies in the future.

The research study published in Nature Communications tested one of the most prominent genes associated with autism, Pogz. Professor Shifman chose this specif-ic gene based on prior findings that links it to developmental disorders and overly friendly behavior in some patients on the autism spectrum. In partnership with Professor Yosef Yarom from the Edmond & Lily Safra Center for Brain Sciences at He-brew University and other laboratories around the world, the research team investigated how a mutation in the Pogz gene impacted on brain development in mice and specifically on the functioning of the cerebellum.

The findings concluded that the mutation led to hyper-social behavior, learning disabilities while also impacting on the physical development of the mice. Upon further investigation, the research team also observed that the genetic mutation affected the proliferation of cells in the brain and inhibited the production of new neurons. The researchers believe that this may be a reason why some children with the mutation exhibit smaller than average head sizes.

While there are presently no effective medicines for the main symptoms of autism, Professor Yarom believes that this research could be instrumental in developing drugs to directly changing the neural processes in the cerebellum. Previous research conducted by Professor Yarom showed that specific chemical agents could change the active functioning of the cerebellum. Ongoing research will therefore be focused on whether similar approaches could lead the lab mice to change their behavior and reverse the effects connected with 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," Professor Shifman said. Professor Yarom added, "Enhanced understanding of the neurological processes behind autism opens up hope-filled possibilities for new treatments."
-end-


The Hebrew University of Jerusalem

Related Autism Articles from Brightsurf:

Autism-cholesterol link
Study identifies genetic link between cholesterol alterations and autism.

National Autism Indicators Report: the connection between autism and financial hardship
A.J. Drexel Autism Institute released the 2020 National Autism Indicators Report highlighting the financial challenges facing households of children with autism spectrum disorder (ASD), including higher levels of poverty, material hardship and medical expenses.

Autism risk estimated at 3 to 5% for children whose parents have a sibling with autism
Roughly 3 to 5% of children with an aunt or uncle with autism spectrum disorder (ASD) can also be expected to have ASD, compared to about 1.5% of children in the general population, according to a study funded by the National Institutes of Health.

Adulthood with autism
The independence that comes with growing up can be scary for any teenager, but for young adults with autism spectrum disorder and their caregivers, the transition from adolescence to adulthood can seem particularly daunting.

Brain protein mutation from child with autism causes autism-like behavioral change in mice
A de novo gene mutation that encodes a brain protein in a child with autism has been placed into the brains of mice.

Autism and theory of mind
Theory of mind, or the ability to represent other people's minds as distinct from one's own, can be difficult for people with autism.

Potential biomarker for autism
A study of young children with autism spectrum disorder published in JNeurosci reveals altered brain waves compared to typically developing children during a motor control task.

Autism often associated with multiple new mutations
Most autism cases are in families with no previous history of the disorder.

State laws requiring autism coverage by private insurers led to increases in autism care
A new study led by researchers at the Johns Hopkins Bloomberg School of Public Health has found that the enactment of state laws mandating coverage of autism spectrum disorder (ASD) was followed by sizable increases in insurer-covered ASD care and associated spending.

Autism's gender patterns
Having one child with autism is a well-known risk factor for having another one with the same disorder, but whether and how a sibling's gender influences this risk has remained largely unknown.

Read More: Autism News and Autism Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.