Brain protein mutation from child with autism causes autism-like behavioral change in mice

ScienceDaily | 7/23/2019 | Staff
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This major finding from a study published in the Journal of Clinical Investigation "presents the exciting possibility of a potential mechanistic underpinning -- in at least a subset of patients -- for some of the altered behaviors observed in ASD and attention deficit hyperactivity disorder, or ADHD," said Aurelio Galli, Ph.D., professor of surgery at the University of Alabama at Birmingham.

The research was led by corresponding authors Galli and Mark Wallace, Ph.D., a neurobiologist and dean at Vanderbilt University.

Brain - Protein - Dopamine - Transporter - DAT

The brain protein studied is the dopamine transporter, or DAT. Certain brain neurons release the neurotransmitter dopamine from the ends of their axons. The dopamine crosses the junction, or synapse, between that axon and a neighboring neuron, triggering a response in that receiving neuron. DAT -- which sits in the membrane of the transmitting neuron -- has the job of dopamine reuptake, pumping released dopamine back into the transmitting neuron from the synapse, thereby terminating the response of the receiving neuron.

Brain activity involving the dopamine system in the region of the brain called the striatum is a critical regulator of motor activity, motivation, attention and reward processing. Given the integral role of the dopamine system in critical brain functions, it is no surprise that dysregulation of this neurotransmitter system has been implicated in neuropsychiatric disorders that include Parkinson's disease; substance abuse with heroin, cocaine, speed, nicotine and other drugs; bipolar disorder; ADHD; and recently ASD.

Galli - Wallace - Colleagues - Mutation - Gene

Galli, Wallace and colleagues studied a mutation in the gene for human DAT that was found in a child with ASD. This mutation generates a substitution at amino acid 356 of DAT, a change from threonine to methionine, so the mutant DAT is called DAT T356M.

A previous study led by Galli and Eric Gouaux, Ph.D., a professor at the Oregon Health & Science University, introduced the mutation into...
(Excerpt) Read more at: ScienceDaily
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