Zn(2+) reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder

Mol Autism. 2015 Feb 24;6:8. doi: 10.1186/s13229-015-0002-7. eCollection 2015.


Our laboratory recently characterized a novel autism spectrum disorder (ASD)-associated de novo missense mutation in the human dopamine transporter (hDAT) gene SLC6A3 (hDAT T356M). This hDAT variant exhibits dysfunctional forward and reverse transport properties that may contribute to DA dysfunction in ASD. Here, we report that Zn(2+) reverses, at least in part, the functional deficits of ASD-associated hDAT variant T356M. These data suggest that the molecular mechanism targeted by Zn(2+) to restore partial function in hDAT T356M may be a novel therapeutic target to rescue functional deficits in hDAT variants associated with ASD.

Keywords: Autism spectrum disorder; Dopamine; Transporter; Zinc; de novo mutation.