Study links CD38 gene mutation to autism spectrum disorder

In a new study, released by the Federation of American Societies for Experimental Biology, a team of researchers aimed at finding out if a deficit in CD38 expression could result in functional modifications in the prefrontal cortex of the brain, associated with social behavior.

Previously, it was found that the enzyme CD38 is vital in the regulation of how oxytocin is secreted. Oxytocin, a hormone produced in the hypothalamus, has been reported to be linked to positive outcomes among symptoms like empathy, anxiety, and maternal behavior commonly seen in patients with autism spectrum disorder (ASD).

For the experiment, researchers divided four groups of mice: adult male, adult female, a juvenile male, a juvenile female, all of which carried an altered CD38 gene. The mice underwent magnetic resonance imaging (MRI), biochemical, and electrophysiological tests. These mice were then compared to C57BL/6 mice placed into four control groups.

Based on the findings, adult mice demonstrated excessive brain growth and neuron dysfunctions correlated with alterations in oxytocin and neurotransmitters linked to empathy and social behavior. In the juvenile male and female mice, along with adult female mice, researchers observed normal brain development, despite a lack of the CD38 gene.

“The juvenile and adult female mice also displayed limited alterations to neuron functions. The juvenile male mice, on the other hand, displayed a decrease in vocalization emission rate that preceded the social alterations seen in the adult male mice,” according to the findings.

“This finding suggests that an early decrease in communication ability might signal the emergence of further social alterations in adulthood that could be linked to an oxytocin deficit.”

The results, researchers say, could be of great significance for people suffering from ASD. Future research, however, should take into account the notion that hallmark traits of ASD may be successfully treated by pharmacology acting on CD38 or oxytocin.

“These findings could be highly relevant for people with ASD and other developmental disorders. Further study should consider that some emotional, social, and behavioral difficulties might be in part reversible by pharmacology acting on CD38, oxytocin, or other affected neurotransmitters.”

The findings were published online in The FASEB Journal.