Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia

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Alicia Kerr1,2, Paras A Patel1,2, Leslie E W LaConte1,3

  • 1Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Roanoke, Virginia, United States.

Investigative Ophthalmology & Visual Science
|August 20, 2019
PubMed
Abstract

Insights

Mutations in the CASK gene cause optic nerve hypoplasia (ONH) and affect retinal ganglion cells (RGCs). CASK is crucial for optic nerve development, but not cell survival within RGCs.

Area of Science:

  • Genetics
  • Neuroscience
  • Ophthalmology

Background:

  • X-linked CASK gene mutations are linked to optic nerve hypoplasia (ONH) and retinal disorders in females.
  • CASK+/- mice show ONH and retinal ganglion cell (RGC) loss, but the specific cellular targets and CASK's role in RGCs remain unclear.

Purpose of the Study:

  • To investigate the role of CASK in retinal cell function and optic nerve development.
  • To determine if CASK deficiency selectively impacts RGCs or other retinal cells.
  • To assess the necessity of CASK expression in RGCs for optic nerve development and maintenance.

Main Methods:

  • Assessed visual behavior and performed electroretinography (ERG) in CASK+/- mice.
  • Utilized a floxed CASK mouse model to study global CASK reduction (hypomorph) and cell-specific deletion in RGCs.
  • Reported a novel hemizygous CASK missense mutation in a boy with ONH.

Main Results:

  • CASK+/- mice exhibited reduced visual contrast sensitivity, with normal ERG.
  • CASK hypomorph mice showed ONH, but RGC-specific CASK deletion did not worsen the condition.
  • The identified mutation in the boy destabilized CASK and impaired its interaction with neurexin.

Conclusions:

  • Mosaic or reduced CASK expression disproportionately affects RGCs.
  • CASK expression within RGCs is not essential for their survival.
  • CASK plays a non-cell-autonomous role in optic nerve development.

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