VKORC1 deficiency in mice causes early postnatal lethality due to severe bleeding

Thromb Haemost. 2009 Jun;101(6):1044-50.

Abstract

Vitamin K hydroquinone is oxidised to the epoxide form (K>O) during vitamin K-dependent posttranslational gamma-glutamyl carboxylation resulting in biological active so called vitamin K-dependent proteins. In turn, K>O is reduced by the enzyme VKORC1 (vitamin K epoxide reductase complex component 1) to complete the vitamin K cycle. To investigate the biological role of VKORC1 in vivo, we generated VKORC1 knockout mice. Homozygous VKORC1-deficient mice developed normally until birth. Within 2-20 days after birth, the knockout mice died due to extensive, predominantly intracerebral haemorrhage. Bleeding resulted from a severe deficiency of gamma-carboxylated clotting factors. This lethal phenotype could be rescued by oral administration of vitamin K. Additionally, morphometric analysis of the limbs in VKORC1-deficient animals revealed reduced length of bone calcification relative to wild-type control mice. The observed phenotype of VKORC1 knockout mice excludes the existence of other enzymes with VKOR activity that can substitute to supply vitamin K hydroquinone required for maturation of blood clotting factors. Thus, our study underscores the essential role of VKORC1 in vitamin K-dependent gamma-glutamyl carboxylation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Newborn / blood
  • Animals, Newborn / growth & development
  • Animals, Newborn / physiology*
  • Blood Coagulation Factors / chemistry
  • Blood Coagulation Factors / genetics
  • Blood Coagulation Factors / metabolism*
  • Bone and Bones / enzymology
  • Bone and Bones / pathology
  • Calcification, Physiologic
  • Carbon Dioxide / chemistry
  • Carbon Dioxide / metabolism
  • Cells, Cultured
  • Cerebral Hemorrhage / genetics
  • Embryonic Stem Cells / enzymology
  • Embryonic Stem Cells / pathology
  • Extremities / growth & development
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mixed Function Oxygenases / genetics
  • Mixed Function Oxygenases / metabolism*
  • Vitamin K / chemistry
  • Vitamin K / metabolism*
  • Vitamin K Epoxide Reductases

Substances

  • Blood Coagulation Factors
  • Vitamin K
  • Carbon Dioxide
  • carboxyl radical
  • Mixed Function Oxygenases
  • Vitamin K Epoxide Reductases