Isoprenoid biosynthesis is not compromised in a Zellweger syndrome mouse model

Biochim Biophys Acta. 2001 May 31;1532(1-2):28-36. doi: 10.1016/s1388-1981(01)00108-1.

Abstract

Because several studies indicated that peroxisomes are important for the biosynthesis of isoprenoids, we wanted to investigate whether a reduced availability of isoprenoids could be one of the pathogenic factors contributing to the severe phenotype of the Pex5(-/-) mouse, a model for Zellweger syndrome. Total cholesterol was determined in plasma, brain and liver of newborn mice. In none of these tissues a significant difference was observed between Pex5(-/-) and wild type or heterozygous mice. The hepatic ubiquinone content was found to be even higher in Pex5(-/-) mice as compared to wild type or heterozygous littermates. To investigate whether the Pex5(-/-) fetuses are able to synthesise their own isoprenoids, fibroblasts derived from these mice were incubated with radiolabeled mevalonolactone as a substrate for isoprenoid synthesis. No significant difference was observed between the cholesterol production rates of Pex5(-/-) and normal fibroblasts. Our results show that there is no deficiency of isoprenoids in newborn Pex5(-/-) mice, excluding the possibility that a lack of these compounds is a determinant factor in the development of the disease state before birth.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Newborn
  • Cholesterol / biosynthesis
  • Cholesterol / metabolism
  • Disease Models, Animal
  • Heterozygote
  • Liver / metabolism
  • Mice
  • Mice, Knockout
  • Peroxisome-Targeting Signal 1 Receptor
  • Receptors, Cytoplasmic and Nuclear / genetics
  • Receptors, Cytoplasmic and Nuclear / metabolism
  • Succinate Cytochrome c Oxidoreductase / metabolism
  • Terpenes / metabolism*
  • Ubiquinone / metabolism
  • Zellweger Syndrome / metabolism*

Substances

  • Peroxisome-Targeting Signal 1 Receptor
  • Pex5 protein, mouse
  • Receptors, Cytoplasmic and Nuclear
  • Terpenes
  • Ubiquinone
  • Cholesterol
  • Succinate Cytochrome c Oxidoreductase