Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver

Biochim Biophys Acta. 1992 Aug 19;1127(3):303-11. doi: 10.1016/0005-2760(92)90236-o.

Abstract

We have determined the levels of free sphingoid bases in livers of normal and cholesterol lipidotic Niemann-Pick type C mice. Hepatic sphingosine and sphinganine levels in affected mice (593 pmol/mg protein) were elevated more than 20-fold when compared to levels in age-matched normal mice (26 pmol/mg protein). Upon fractionation of mutant liver homogenates by differential centrifugation, most of the sphingoid bases sedimented with beta-hexosaminidase in the 9000 x g pellet. Co-sedimentation of sphingoid bases with a lighter beta-hexosaminidase peak in Percoll gradients suggests that these bases accumulate in lipid laden lysosomes. A cytosolic sphinganine kinase is the first enzyme in the degradative pathway of sphingoid base metabolism. Activity of this enzyme was partially deficient in crude mutant liver cytosolic extracts due to the presence of an inhibitory substance. Following molecular sieving of mutant cytosolic extracts on Sepharose 4B, sphinganine kinase, with normal levels of activity, was resolved from a complex higher-molecular-weight inhibitor fraction. The Km values for either sphinganine or ATP-Mg substrates with partially purified sphinganine kinase from normal and mutant mouse liver extracts, were similar. These findings indicate that accumulation of free sphingoid bases is not due to a direct inherent deficiency in the catalytic activity of sphinganine kinase. The possible cause and effect relationship between the accumulation of these endogenous hydrophobic amines and the lesion in intracellular cholesterol trafficking in Niemann-Pick type C disease is discussed.

MeSH terms

  • Animals
  • Cholesterol / metabolism
  • Chromatography, Thin Layer
  • Cytosol / metabolism
  • Disease Models, Animal
  • Kinetics
  • Liver / metabolism*
  • Lysosomes / metabolism*
  • Mass Spectrometry
  • Mice
  • Mice, Inbred BALB C
  • Mice, Mutant Strains
  • Niemann-Pick Diseases / metabolism*
  • Phosphotransferases (Alcohol Group Acceptor)*
  • Phosphotransferases / metabolism
  • Species Specificity
  • Sphingosine / analogs & derivatives*
  • Sphingosine / isolation & purification
  • Sphingosine / metabolism*

Substances

  • dihydrosphingosine 1-phosphate
  • Cholesterol
  • Phosphotransferases
  • Phosphotransferases (Alcohol Group Acceptor)
  • sphinganine kinase
  • Sphingosine
  • safingol