Researchers Introduce New Model That Could Explain Autism

Researchers genetically edited macaque monkeys to study autism in the hopes of developing new treatments for humans. During the experiment, the macaque monkeys exhibited similar behavioral patterns to humans who have the same mutations.   ( Christel | Pixabay )

Researchers from the United States and China used the gene-editing system CRISPR on macaque monkeys to further understand a mutation linked to autism in humans.

According to the study, which was published by MIT on June 12, Wednesday, the experiment could yield new treatments for neurodevelopmental disorders.

"Our goal is to generate a model to help us better understand the neural biological mechanism of autism, and ultimately to discover treatment options that will be much more translatable to humans," stated Guoping Feng, a member of MIT's McGovern Institute for Brain Research and one of the senior authors of the study.

Developing New Autism Model

The researchers focused on the gene known as Shank3, which has been strongly linked with an autism spectrum disorder. Deletion of Shank3 is also known to cause Phelan-McDermid Syndrome. The symptoms of Phelan McDermid Syndrome vary, but people who have it might experience intellectual disability, delayed or absent speech, motor delays, and epilepsy.

For the experiment, researchers in China, where primate reporductive technology is more advanced, injected the CRISPR components into the fertilized eggs of macaque monkeys. Researchers at MIT analyzed most of the data.

The international collaborators found that the monkeys who have the Shank3 mutation woke up frequently during the night, engaged in fewer social interaction, and showed repetitive behaviors. These same symptoms are also observed in humans who have the genetic mutation.

MRI scans of the monkeys also exhibited similar patterns to humans who have autism spectrum disorder. The researchers reported that the neurons of the monkeys showed reduced functional connectivity in the striatum and the thalamus, as well as strengthened connectivity in other regions, including the sensory cortex.

Development Of New Treatments

The researchers shared that they will begin testing treatments for autism-related symptoms. The team also hope to identify biomarkers to see how the treatments affect brain function.

"We don't know whether this will succeed in developing treatments, but we will see in the next few years how this can help us to translate some of the findings from the lab to the clinic," Feng said.

In addition, according to the researchers, the approach can also be adopted in the study of other neurological disorders associated with genetic mutations. They mentioned Fragile X, the most common inherited form of intellectual disability, which affects one in 4,000 males and one in 8,000 females.

The findings were published in the journal Nature on Wednesday, June 12.

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