July 24, 2019

Defective transporter linked to autism

A first-of-its-kind mouse model may help reveal mechanistic underpinnings for the altered behaviors of autism spectrum disorder.

by Bill Snyder

Signaling by the neurotransmitter dopamine is a critical regulator of movement, attention and reward. Disrupted dopamine signaling has been implicated in brain disorders including attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD).

Now researchers at Vanderbilt University and the University of Alabama at Birmingham (UAB) and colleagues report that mice with a mutation in the dopamine transporter, which regulates the brain’s supply of dopamine, exhibit some of the behavioral characteristics of ASD.

This first-of-its-kind mouse model, reported July 22 in the Journal of Clinical Investigation, may help reveal the “mechanistic underpinnings” for the altered behaviors observed in ASD and ADHD — at least in a subset of patients.

In the future it may be possible, by blocking the defective dopamine transporter, to alleviate symptoms of ASD including hyperactivity, repetitive behaviors and social deficits, the researchers conclude.

The study was led by MD/PhD student Gabriela DiCarlo, Mark Wallace, PhD, Dean of the Graduate School at Vanderbilt, and Aurelio Galli, PhD, DSc, Director of Gastrointestinal Biology Research at UAB.

This research was supported by the National Institutes of Health (grants DA038058, DA035263, MH115535, MH114316, MH106563, GM007347).