Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I

Pediatr Res. 2006 Feb;59(2):196-202. doi: 10.1203/01.pdr.0000197313.44265.cb.

Abstract

Infants with glutaric aciduria type 1 (GA1) are subject to intracranial vascular dysfunction. Here, we demonstrate that the disease-specific metabolite 3-hydroxyglutaric acid (3-OH-GA) inhibits basal and vascular endothelial growth factor (VEGF)-induced endothelial cell migration. 3-OH-GA affects the morphology of VEGF-induced endothelial tubes in vitro because of partial disintegration of endothelial cells. These effects correlate with Ve-cadherin loss. Remarkably, 3-OH-GA treatment of human dermal microvascular endothelial cells leads to disruption of actin cytoskeleton. Local application of 3-OH-GA alone or in combination with VEGF in chick chorioallantoic membrane induces abnormal vascular dilatation and hemorrhage in vivo. The study demonstrates that 3-OH-GA reduces endothelial chemotaxis and disturbs structural vascular integrity in vitro and in vivo. These data may provide insight in the mechanisms of 3-OH-GA-induced vasculopathic processes and suggest N-methyl-D-aspartate receptor-dependent and -independent pathways in the pathogenesis of GA1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / metabolism
  • Antigens, CD
  • Cadherins / metabolism
  • Endothelium, Vascular / cytology
  • Endothelium, Vascular / drug effects*
  • Endothelium, Vascular / metabolism
  • Glutarates / metabolism*
  • Glutarates / pharmacology*
  • Humans
  • Metabolism, Inborn Errors / pathology*
  • Vascular Endothelial Growth Factor A / physiology

Substances

  • 3-hydroxyglutaric acid
  • Actins
  • Antigens, CD
  • Cadherins
  • Glutarates
  • Vascular Endothelial Growth Factor A
  • cadherin 5
  • glutaric acid