Decreased nitric oxide bioavailability in a mouse model of Fabry disease

J Am Soc Nephrol. 2009 Sep;20(9):1975-85. doi: 10.1681/ASN.2008111190. Epub 2009 Jul 23.

Abstract

Fabry disease is a lysosomal storage disorder that results in an accumulation of globotriaosylceramide in vascular tissue secondary to a deficiency in alpha-galactosidase A. The glycolipid-associated vasculopathy results in strokes and cardiac disease, but the basis for these complications is poorly understood. Recent studies in the alpha-galactosidase A-knockout mouse suggested that a decrease in nitric oxide (NO) bioavailability may play a role in the abnormal thrombosis, atherogenesis, and vasorelaxation that are characteristic of these mice. To understand better the association between impaired NO bioavailability and glycolipid accumulation, we studied alpha-galactosidase A-knockout mice or primary cultures of their aortic endothelial cells. Treatment of knockout mice with a potent inhibitor of glucosylceramide synthase reversed accumulation of globotriaosylceramide but failed to normalize the defect in vasorelaxation. Basal and insulin-stimulated endothelial NO synthase (eNOS) activities in endothelial cells derived from knockout mice were lower than those observed from wild-type mice; normalization of glycolipid only partially reversed this reduction in eNOS activity. The loss of eNOS activity associated with a decrease in high molecular weight caveolin oligomers in endothelial cells and isolated caveolae, suggesting a role for glycolipids in caveolin assembly. Finally, concentrations of ortho-tyrosine and nitrotyrosine in knockout endothelial cells were markedly elevated compared with wild-type endothelial cells. These findings are consistent with a loss of NO bioavailability, associated with eNOS uncoupling, in the alpha-galactosidase A-knockout mouse.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Acetylcholine / metabolism
  • Aging / physiology
  • Animals
  • Aorta / metabolism
  • Aorta / pathology
  • Caveolae / metabolism
  • Caveolin 1 / metabolism
  • Cells, Cultured
  • Disease Models, Animal
  • Endothelial Cells / metabolism*
  • Endothelial Cells / pathology*
  • Fabry Disease / metabolism*
  • Fabry Disease / pathology*
  • Glucosyltransferases / metabolism
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Nitric Oxide / metabolism*
  • Nitric Oxide Synthase Type III / metabolism
  • Trihexosylceramides / metabolism
  • Vasodilation / physiology
  • alpha-Galactosidase / genetics

Substances

  • Caveolin 1
  • Trihexosylceramides
  • Nitric Oxide
  • globotriaosylceramide
  • Nitric Oxide Synthase Type III
  • Nos3 protein, mouse
  • Glucosyltransferases
  • ceramide glucosyltransferase
  • alpha-Galactosidase
  • Acetylcholine