Altered distribution of lipid subfractions and decreased paraoxonase-1 activity in children with smith-lemli-opitz syndrome

Abstract

Objectives: Smith-Lemli-Opitz syndrome (SLOS) is a rare inherited disease caused by the gene mutation of 7-dehydrocholesterol (7DHC) reductase catalyzing the last step of cholesterol biosynthesis. High oxidizability of 7DHC and the appearance of small-sized low-density lipoprotein (LDL) subfractions may indicate an increased endogenous oxidative stress. In turn, high-density lipoprotein (HDL)-linked paraoxonase-1 (PON1) enzyme prevents lipoproteins from oxidative modifications. Our aim was to determine PON1 activity and the distribution of lipoprotein subfractions in SLOS.