Researchers Gained Further Understanding Of Genetic Mutations And Autism That Indicates A New Potential Treatment Avenue

sewcream - - illustrative purpose only, not the actual person

According to the CDC, nearly 5.5 million U.S. adults have Autism spectrum disorder (ASD), “a developmental disability caused by differences in the brain.”

Individuals with ASD may communicate and interact differently in social situations. They may also learn, move, and pay attention differently than those who are neurotypical.

And in recent years, scientists have found a strong relationship between ASD prevalence and specific mutated genes.

PTEN, a gene that normally works to control cell growth and regulate neurons’ ability to alter their connection strength, is one of the most common.

When PTEN is mutated, it can cause both ASD, as well as epilepsy and macrocephaly– or an enlarged head.

Just last week, though, a new collaborative study conducted by researchers at Dartmouth’s Geisel School of Medicine and the University of Vermont acquired a further understanding of ASD’s neurobiological basis by focusing on PTEN.

“In previous studies, our lab and many others have shown the PTEN mutations result in an increase in the number of excitatory synaptic connections between neurons in mice– which we believe could be the fundamental basis for the symptoms that are exhibited by ASD patients,” explained Bryan Luikart, one of the study’s authors.

So, in order to replicate the genetic differences found in human ASD patients, the research team first engineered viruses that were able to “knock out” the mouse PTEN gene.

Then, a mutated human PTEN gene was substituted in its place.

sewcream – – illustrative purpose only, not the actual person

Sign up for Chip Chick’s newsletter and get stories like this delivered straight to your inbox.

1 of 2