Some Autism Symptoms May Be Reversed By Gene Editing, Scientists Suggest

Neuroscientists at the Massachusetts Institute of Technology have taken a major step forward in the quest to find a genetic approach to treating autism.

In a promising new study conducted on mice, researchers showed that “turning on” a specific gene called Shank3 that was mutated in some of the mice could reverse symptoms associated with autism, such as repetitive behaviors and social avoidance.

Roughly 1 percent of people with autism are missing Shank3, usually found in synapses, the building blocks that connect brain cells. Others may have a mutated version. The gene not only helps facilitate communication between neurons in the brain, but is also critical for brain development. Mutations in the gene may also be linked to schizophrenia.

“Genetic mutations play a significant role in autism. In the last 10 years, scientists have identified hundreds of genes that are linked to the cause of autism,” said Guoping Feng, a professor of brain and cognitive sciences at MIT and the study’s lead author. “Although, in many cases, alterations in multiple genes may contribute to autism, Shank3 is one of the rare cases that this single genetic mutation could cause severe autism.”

In the study, which was published Wednesday in the journal Nature, the researchers used genetic engineering to “turn off” the Shank3 protein in mice when they were still embryos. The mice that did not have an active Shank3 gene displayed autism-like symptoms after they were born.

But when the mice were older, researchers “turned on” the Shank3 gene by using an estrogen-blocking chemical called tamoxifen, which they added to the animals’ diet. Once this happened, the mice stopped displaying the behavioral symptoms of autism.

When the researchers turned on the Shank3 protein in other, younger mice, the animals exhibited improved motor skills —> Read More