OCD candidate gene SLC1A1/EAAT3 impacts basal ganglia-mediated activity and stereotypic behavior

Proc Natl Acad Sci U S A. 2017 May 30;114(22):5719-5724. doi: 10.1073/pnas.1701736114. Epub 2017 May 15.

Abstract

Obsessive-compulsive disorder (OCD) is a chronic, disabling condition with inadequate treatment options that leave most patients with substantial residual symptoms. Structural, neurochemical, and behavioral findings point to a significant role for basal ganglia circuits and for the glutamate system in OCD. Genetic linkage and association studies in OCD point to SLC1A1, which encodes the neuronal glutamate/aspartate/cysteine transporter excitatory amino acid transporter 3 (EAAT3)/excitatory amino acid transporter 1 (EAAC1). However, no previous studies have investigated EAAT3 in basal ganglia circuits or in relation to OCD-related behavior. Here, we report a model of Slc1a1 loss based on an excisable STOP cassette that yields successful ablation of EAAT3 expression and function. Using amphetamine as a probe, we found that EAAT3 loss prevents expected increases in (i) locomotor activity, (ii) stereotypy, and (iii) immediate early gene induction in the dorsal striatum following amphetamine administration. Further, Slc1a1-STOP mice showed diminished grooming in an SKF-38393 challenge experiment, a pharmacologic model of OCD-like grooming behavior. This reduced grooming is accompanied by reduced dopamine D1 receptor binding in the dorsal striatum of Slc1a1-STOP mice. Slc1a1-STOP mice also exhibit reduced extracellular dopamine concentrations in the dorsal striatum both at baseline and following amphetamine challenge. Viral-mediated restoration of Slc1a1/EAAT3 expression in the midbrain but not in the striatum results in partial rescue of amphetamine-induced locomotion and stereotypy in Slc1a1-STOP mice, consistent with an impact of EAAT3 loss on presynaptic dopaminergic function. Collectively, these findings indicate that the most consistently associated OCD candidate gene impacts basal ganglia-dependent repetitive behaviors.

Keywords: EAAC1; Tourette; basal ganglia; dopamine; obsessive-compulsive disorder.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amphetamines / pharmacology
  • Animals
  • Basal Ganglia / physiology*
  • Cell Line
  • Central Nervous System Stimulants / pharmacology
  • Dopamine / metabolism
  • Excitatory Amino Acid Transporter 3 / genetics*
  • Glutamic Acid / metabolism
  • Grooming / physiology
  • Maze Learning / physiology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Motor Activity / genetics*
  • Motor Activity / physiology
  • Obsessive-Compulsive Disorder / genetics*
  • Obsessive-Compulsive Disorder / physiopathology*
  • Receptors, Dopamine D1 / metabolism
  • Reflex, Startle / physiology

Substances

  • Amphetamines
  • Central Nervous System Stimulants
  • Excitatory Amino Acid Transporter 3
  • Receptors, Dopamine D1
  • Slc1a1 protein, mouse
  • Glutamic Acid
  • Dopamine