Serotonin transporter variant drives preventable gastrointestinal abnormalities in development and function

J Clin Invest. 2016 Jun 1;126(6):2221-35. doi: 10.1172/JCI84877. Epub 2016 Apr 25.

Abstract

Autism spectrum disorder (ASD) is an increasingly common behavioral condition that frequently presents with gastrointestinal (GI) disturbances. It is not clear, however, how gut dysfunction relates to core ASD features. Multiple, rare hyperfunctional coding variants of the serotonin (5-HT) transporter (SERT, encoded by SLC6A4) have been identified in ASD. Expression of the most common SERT variant (Ala56) in mice increases 5-HT clearance and causes ASD-like behaviors. Here, we demonstrated that Ala56-expressing mice display GI defects that resemble those seen in mice lacking neuronal 5-HT. These defects included enteric nervous system hypoplasia, slow GI transit, diminished peristaltic reflex activity, and proliferation of crypt epithelial cells. An opposite phenotype was seen in SERT-deficient mice and in progeny of WT dams given the SERT antagonist fluoxetine. The reciprocal phenotypes that resulted from increased or decreased SERT activity support the idea that 5-HT signaling regulates enteric neuronal development and can, when disturbed, cause long-lasting abnormalities of GI function. Administration of a 5-HT4 agonist to Ala56 mice during development prevented Ala56-associated GI perturbations, suggesting that excessive SERT activity leads to inadequate 5-HT4-mediated neurogenesis. We propose that deficient 5-HT signaling during development may contribute to GI and behavioral features of ASD. The consequences of therapies targeting SERT during pregnancy warrant further evaluation.

Publication types

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

MeSH terms

  • Animals
  • Autism Spectrum Disorder / etiology
  • Autism Spectrum Disorder / genetics
  • Autism Spectrum Disorder / physiopathology
  • Enteric Nervous System / abnormalities
  • Enteric Nervous System / growth & development
  • Enteric Nervous System / physiopathology
  • Female
  • Gastrointestinal Motility / genetics
  • Gastrointestinal Motility / physiology
  • Gastrointestinal Tract / abnormalities*
  • Gastrointestinal Tract / growth & development
  • Gastrointestinal Tract / physiopathology
  • Genetic Variation
  • Humans
  • Male
  • Mice
  • Mice, 129 Strain
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mice, Mutant Strains
  • Models, Animal
  • Neurogenesis
  • Pregnancy
  • Serotonin / metabolism
  • Serotonin Plasma Membrane Transport Proteins / deficiency
  • Serotonin Plasma Membrane Transport Proteins / genetics*
  • Serotonin Plasma Membrane Transport Proteins / metabolism*

Substances

  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • Slc6a4 protein, mouse
  • Serotonin