BUFFALO, N.Y., May 29 (UPI) -- Researchers were able to reverse autistic behaviors in mice missing the Shank3 gene, a major risk factor for autism in humans.
The loss of the Shank3 gene creates a risk factor for autism by disrupting communication between neurons, but by inhibiting the chemical reaction caused by that gene loss researchers have been able to correct the disruption causing autistic behavior.
In humans, 84 percent of autism patients have been found to have the Shank3 genetic defiency. This deficiency affects actin filaments, a sort of cellular "highway" in the prefrontal cortex of the brain, associated with higher level functions and implicated in autism spectrum disorders. The abnormal regulation of the actin filaments disrupts the movement of the NMDA (n-methyl-D-aspartate) receptor, necessary for learning and memory.
"This research is the first to show that, in animals, abnormal actin regulation causes autism-like behaviors," said Zhen Yan, PhD, a professor in the Department of Physiology and Biophysics in the University of Buffalo School of Medicine and Biomedical Sciences, in a press release.
"With Shank3 deficiency, we have found that the expression or activity of some actin regulators, such as cofilin, is altered," Yan added. "This upsets the equilibrium of actin filament assembly, which, in turn, disrupts the normal delivery and maintenance of NMDA and other critical receptors."
Researchers found they were able to restore normal behaviors in the mice with Shank3 deficiency. Normalizing the activity of cofilin or other regulators restored actin function, allowing the normal flow of NMDA and other critical receptors.
"Our results suggest a promising therapeutic strategy for treating autism," Yan said.
The study is published in Cell.