A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation

Sci Rep. 2018 Jul 5;8(1):10219. doi: 10.1038/s41598-018-28545-0.

Abstract

Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disease in humans, characterized by abnormal deposition of cholesterol and phospholipids in cornea caused by mutations in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene. In this study, we generated a mouse line carrying Ubiad1 N100S point mutation using the CRISPR/Cas9 technique to investigate the pathogenesis of SCD. In vivo confocal microscopy revealed hyper-reflective dot-like deposits in the anterior cornea in heterozygotes and homozygotes. No significant change was found in corneal epithelial barrier function or wound healing. Electron microscopy revealed abnormal mitochondrial morphology in corneal epithelial, stromal, and endothelial cells. Mitochondrial DNA copy number assay showed 1.27 ± 0.07 fold change in homozygotes versus 0.98 ± 0.05 variation in wild type mice (P < 0.05). Lipidomic analysis indicated abnormal metabolism of glycerophosphoglycerols, a lipid class found in mitochondria. Four (34:1, 34:2, 36:2, and 44:8) of the 11 glycerophosphoglycerols species identified by mass spectrometry showed a significant increase in homozygous corneas compared with heterozygous and wild-type mouse corneas. Unexpectedly, we did not find a difference in the corneal cholesterol level between different genotypes by filipin staining or lipidomic analysis. The Ubiad1N100S mouse provides a promising animal model of SCD revealing that mitochondrial dysfunction is a prominent component of the disease. The different phenotype in human and mouse may due to difference in cholesterol metabolism between species.

Publication types

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

MeSH terms

  • Animals
  • CRISPR-Cas Systems
  • Cornea / diagnostic imaging*
  • Cornea / metabolism
  • Corneal Dystrophies, Hereditary / diagnostic imaging*
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Dystrophies, Hereditary / metabolism
  • Dimethylallyltranstransferase / genetics*
  • Disease Models, Animal*
  • Glycerophosphates / metabolism
  • Humans
  • Male
  • Mice
  • Microscopy, Confocal
  • Microscopy, Electron
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Point Mutation

Substances

  • Glycerophosphates
  • diglycerol phosphate
  • Dimethylallyltranstransferase
  • Ubiad1 protein, mouse

Supplementary concepts

  • Corneal Dystrophy, Crystalline, of Schnyder