Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome

Biochem Biophys Res Commun. 2006 Jun 23;345(1):205-9. doi: 10.1016/j.bbrc.2006.04.078. Epub 2006 Apr 25.

Abstract

Smith-Lemli-Opitz syndrome (SLOS), caused by 7-dehydrocholesterol-reductase (DHCR7) deficiency, shows variable severity independent of DHCR7 genotype. To test whether peroxisomes are involved in alternative cholesterol synthesis, we used [1-(14)C]C24:0 for peroxisomal beta-oxidation to generate [1-(14)C]acetyl-CoA as cholesterol precursor inside peroxisomes. The HMG-CoA reductase inhibitor lovastatin suppressed cholesterol synthesis from [2-(14)C]acetate and [1-(14)C]C8:0 but not from [1-(14)C]C24:0, implicating a peroxisomal, lovastatin-resistant HMG-CoA reductase. In SLOS fibroblasts lacking DHCR7 activity, no cholesterol was formed from [1-(14)C]C24:0-derived [1-(14)C]acetyl-CoA, indicating that the alternative peroxisomal pathway also requires this enzyme. Our results implicate peroxisomes in cholesterol biosynthesis but provide no link to phenotypic variation in SLOS.

Publication types

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

MeSH terms

  • Acetyl Coenzyme A / metabolism*
  • Animals
  • COS Cells
  • Cells, Cultured
  • Chlorocebus aethiops
  • Cholesterol / biosynthesis*
  • Fibroblasts / metabolism*
  • Humans
  • Oxidoreductases Acting on CH-CH Group Donors / metabolism*
  • Peroxisomes / metabolism*
  • Smith-Lemli-Opitz Syndrome / metabolism*

Substances

  • Acetyl Coenzyme A
  • Cholesterol
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase