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Presynaptic dysfunction in CASK-related neurodevelopmental disorders.

Martin Becker1,2, Francesca Mastropasqua1,2, Jan Philipp Reising2,3

  • 1Center of Neurodevelopmental Disorders (KIND), Division of Neuropsychiatry, Department of Women's and Children's Health, Karolinska Institutet, and Center for Psychiatry Research, Region Stockholm, Sweden.

Translational Psychiatry
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Summary
This summary is machine-generated.

CASK mutations reduce CASK protein in neurons, impacting presynaptic development and the excitatory-inhibitory balance. This research offers insights for potential treatments for CASK-related neurodevelopmental disorders.

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Area of Science:

  • Neuroscience
  • Genetics
  • Stem Cell Biology

Background:

  • CASK-related disorders are rare neurodevelopmental conditions with limited understanding of CASK gene mutation effects in human neurons.
  • Investigating CASK's role is crucial for understanding these complex disorders.

Purpose of the Study:

  • To investigate the functional consequences of CASK mutations in human neurons.
  • To analyze the impact of CASK deficiency on neuronal development and synaptic function.

Main Methods:

  • Utilized induced pluripotent stem cell (iPSC)-derived neurons from two CASK mutation carriers.
  • Analyzed CASK protein levels, gene expression of CASK interactors and presynaptic development genes.
  • Assessed inhibitory synapse size using VGAT staining and in vivo GABA quantification via magnetic resonance spectroscopy.

Main Results:

  • Reduced CASK protein levels were observed in neurons from mutation carriers.
  • Significant downregulation of genes related to presynaptic development and CASK protein interactors.
  • CASK-deficient neurons exhibited decreased inhibitory synapse size, potentially altering the excitatory-inhibitory (E/I) balance.

Conclusions:

  • CASK mutations disrupt neuronal development and synaptic function, impacting the E/I balance.
  • iPSC-derived neurons are a valuable model for studying CASK-related disorders.
  • Findings suggest potential therapeutic targets for CASK-related disorders focusing on presynaptic function and E/I balance.