Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome

J Lipid Res. 2011 Oct;52(10):1810-20. doi: 10.1194/jlr.M018366. Epub 2011 Aug 4.

Abstract

Treatment of Sprague-Dawley rats with AY9944, an inhibitor of 3β-hydroxysterol-Δ(7)-reductase (Dhcr7), leads to elevated levels of 7-dehydrocholesterol (7-DHC) and reduced levels of cholesterol in all biological tissues, mimicking the key biochemical hallmark of Smith-Lemli-Opitz syndrome (SLOS). Fourteen 7-DHC-derived oxysterols previously have been identified as products of free radical oxidation in vitro; one of these oxysterols, 3β,5α-dihydroxycholest-7-en-6-one (DHCEO), was recently identified in Dhcr7-deficient cells and in brain tissues of Dhcr7-null mouse. We report here the isolation and characterization of three novel 7-DHC-derived oxysterols (4α- and 4β-hydroxy-7-DHC and 24-hydroxy-7-DHC) in addition to DHCEO and 7-ketocholesterol (7-kChol) from the brain tissues of AY9944-treated rats. The identities of these five oxysterols were elucidated by HPLC-ultraviolet (UV), HPLC-MS, and 1D- and 2D-NMR. Quantification of 4α- and 4β-hydroxy-7-DHC, DHCEO, and 7-kChol in rat brain, liver, and serum were carried out by HPLC-MS using d(7)-DHCEO as an internal standard. With the exception of 7-kChol, these oxysterols were present only in tissues of AY9944-treated, but not control rats, and 7-kChol levels were markedly (>10-fold) higher in treated versus control rats. These findings are discussed in the context of the potential involvement of 7-DHC-derived oxysterols in the pathogenesis of SLOS.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Anticholesteremic Agents / pharmacology*
  • Cholestenones / metabolism
  • Cholesterol / metabolism
  • Chromatography, High Pressure Liquid
  • Dehydrocholesterols / metabolism
  • Disease Models, Animal*
  • Hydroxycholesterols / metabolism*
  • Ketocholesterols / metabolism
  • Lipid Peroxidation / drug effects
  • Magnetic Resonance Spectroscopy
  • Mass Spectrometry
  • Mice
  • Rats
  • Rats, Sprague-Dawley
  • Smith-Lemli-Opitz Syndrome / drug therapy*
  • Smith-Lemli-Opitz Syndrome / metabolism
  • Smith-Lemli-Opitz Syndrome / pathology
  • Spectrophotometry, Ultraviolet
  • Sterols / metabolism*
  • trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride / pharmacology*

Substances

  • Anticholesteremic Agents
  • Cholestenones
  • Dehydrocholesterols
  • Hydroxycholesterols
  • Ketocholesterols
  • Sterols
  • trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride
  • Cholesterol
  • 7-dehydrocholesterol
  • 7-ketocholesterol