Plasma lipoproteins and monocyte‐macrophages in a peroxisome‐deficient system: Study of a patient with infantile refsum disease

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Abstract
Summary: Hypocholesterolaemia in infantile Refsum disease (IRD) may link peroxisomes and lipoprotein metabolism. In our patient, plasma cholesterol levels were reduced to 26% and 29% of control in LDL and HDL fractions, respectively. Plasma apolipoproteins B‐100 and A‐I levels were 52% and 66% of controls, respectively. In the kindred, plasma cholesterol concentration was 61–73% of controls. The HDL‐cholesterol/apo A‐I ratios were: patient 0.12; kindred 0.17; controls 0.28.Analysis of the IRD patient's lipoprotein revealed compositional abnormalities in all fractions. The patient's LDL demonstrated a substantial reduction in its lipid‐to‐protein ratio. Alterations in plasma lipoproteins affect their interaction with macrophages. Upon incubation of the patient's LDL with J‐774 macrophages, its cellular uptake, measured as cholesterol esterification rate, was only 66% of a control rate. The abnormal LDL of the IRD patient showed also only 25% of control susceptibility toin vitrooxidation. Studies of cellular cholesterol metabolism in the patient's monocyte‐derived macrophages (MDM) showed 57% increased cholesterol esterification rate in comparison to normal MDM. The possible link between lipoprotein abnormalities and monocyte‐macrophage cholesterol metabolism is discussed.

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