A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute

Winter, 2019 | Number 1, Volume 33

DAT mutation alters behavior in fruit flies

A mutation in one gene associated with autism causes abnormal behavior in fruit flies, according to a new study.

The mutation studied by Nicholas Campbell et al. encodes for the dopamine transporter, or DAT, a brain protein that pumps the neurotransmitter dopamine back into nerve cells after it has been released. The mutant gene produces a variant of the protein that is missing a single amino acid.

The researchers found that fruit flies with this gene mutation are hyperactive and exhibit repetitive behavior, grooming themselves 23% of the time compared to 6% of the time for other fruit flies. In addition, they are more fearful, freezing for longer periods in response to the sound of a predatory wasp. The flies with the mutant gene also exhibit impaired social interactions, “herding together” in response to a threat in a different manner than other fruit flies do.

The researchers have identified several other mutations in the DAT gene that affect its function in individuals with ASD. For these people, they say, disruption of dopamine transport appears to be a risk factor that promotes complications associated with ASD.


Citations

“Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in SLC6A3,” Nicholas G. Campbell, Aparna Shekar, Jenny I. Aguilar, Dungeng Peng, Vikas Navratna, Dongxue Yang, Alexander N. Morley, Amanda M. Duran, Greta Galli, Brian O’Grady, Ramnarayan Ramachandran, James S. Sutcliffe, Harald H. Sitte, Kevin Erreger, Jens Meiler, Thomas Stockner, Leon M. Bellan, Heinrich J. G. Matthies, Eric Gouaux, Hassane S. Mchaourab, and Aurelio Galli, Proceedings of the National Academy of Sciences, February 12, 2019 (epub

prior to print publication). Address: Eric Gouaux, [email protected].

—and—

“Human brain protein associated with autism confers abnormal behavior in fruit flies,” Jeff

Hansen, University of Alabama at Birmingham, February 11, 2019.