Reduced axonal localization of a Caps2 splice variant impairs axonal release of BDNF and causes autistic-like behavior in mice

Proc Natl Acad Sci U S A. 2012 Dec 18;109(51):21104-9. doi: 10.1073/pnas.1210055109. Epub 2012 Dec 3.

Abstract

Ca(2)(+)-dependent activator protein for secretion 2 (CAPS2 or CADPS2) potently promotes the release of brain-derived neurotrophic factor (BDNF). A rare splicing form of CAPS2 with deletion of exon3 (dex3) was identified to be overrepresented in some patients with autism. Here, we generated Caps2-dex3 mice and verified a severe impairment in axonal Caps2-dex3 localization, contributing to a reduction in BDNF release from axons. In addition, circuit connectivity, measured by spine and interneuron density, was diminished globally. The collective effect of reduced axonal BDNF release during development was a striking and selective repertoire of deficits in social- and anxiety-related behaviors. Together, these findings represent a unique mouse model of a molecular mechanism linking BDNF-mediated coordination of brain development to autism-related behaviors and patient genotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Animals
  • Anxiety
  • Autistic Disorder / genetics
  • Autistic Disorder / metabolism*
  • Axons / metabolism*
  • Brain / metabolism
  • Brain Mapping / methods
  • Brain-Derived Neurotrophic Factor / metabolism
  • Calcium-Binding Proteins / genetics*
  • Calcium-Binding Proteins / physiology*
  • Crosses, Genetic
  • Exocytosis
  • Exons
  • Gene Expression Regulation*
  • Glial Cell Line-Derived Neurotrophic Factor / metabolism
  • Mice
  • Models, Genetic
  • Models, Neurological
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology*
  • Neurons / metabolism
  • Risk Factors
  • Social Behavior

Substances

  • Brain-Derived Neurotrophic Factor
  • CAPS2 protein, mouse
  • Calcium-Binding Proteins
  • Glial Cell Line-Derived Neurotrophic Factor
  • Nerve Tissue Proteins