Abstract
We investigated lipoprotein metabolism in fourteen patients with recessive X-linked ichthyosis (RXLI), a metabolic disease in which steroid sulfatase was deficient. Polyacrylamide gel electro-phoretic mobility of low density lipoprotein (LDL) was markedly increased in all patients. Plasma cholesterol (TC) levels ranged from normal to slightly low (mean±SD; 156±28mg/dl). In four patients, plasma triglyceride (TG) levels were slightly or moderately high which ranged from 150 to 365mg/dl. Plasma apoprotein B (apo B) levels were in normal range (99±17mg/dl). While apo B to TC ratios were higher than normal control (0.63±0.11 vs. 0.52±0.07, p<0.01).In these patients, marked changes in lipid and apoprotein compositions of LDL fraction were observed, that is, esterified cholesterol content in LDL (LDL-CE) were significantly lower (37±4 vs. 41±2% of total lipids, p<0.01), in contrast, TG content (LDL-TG) were higher than in LDL fraction of control subjects (18±7 vs. 10±2, p<0.001), and apo B to cholesterol ratios in LDL were higher than those in normal control (1.21±0.19 vs. 0.73±0.05, p<0.001). These findings suggest that the rapidly migrating LDL in patients with RXLI is accompanied by remarkable changes of lipid and apoprotein compositions, which may related to increase of cholesterol sulfate in LDL fraction which has strong electronegativity.This anionized LDL, in which cholesterol sulfate was increased, was detected to bind to the LDL receptor of fibroblasts, but the binding activity was slightly lower than normal LDL. This study shows that increase of cholesterol sulfate in LDL of patients with RXLI may influence LDL receptor affinity.
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